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Disease on EC 1.14.14.16 - steroid 21-monooxygenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
11beta-hydroxysteroid dehydrogenase deficiency
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
Epidemiologic study of adrenal gland disorders in Japan.
3(or 17)beta-hydroxysteroid dehydrogenase deficiency
3 alpha-Androstanediol glucuronide in premature and normal pubarche.
Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.
Congenital adrenal hyperplasia in pregnancy.
Congenital adrenal hyperplasia.
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women.
[3 beta-hydroxysteroid dehydrogenase deficiency and 21-hydroxylase deficiency in hirsutism]
3beta-hydroxy-delta5-steroid dehydrogenase deficiency
Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome.
3beta-hydroxysteroid 3-dehydrogenase deficiency
Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary marker analysis using GC/MS-SIM.
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
46, XX Disorders of Sex Development
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7.
Ambiguous genitalia--etiology, diagnosis, and therapy.
Disorders of androgen biosynthesis.
Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia.
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Prenatal treatment of congenital adrenal hyperplasia.
[A case of female pseudohermaphroditism caused by adrenal deficiency in 21-hydroxylase and 11-hydroxylase.]
[Combined treatment of pseudohermaphroditism]
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Female pseudohermaphroditism in congenital adrenogenital syndrome as an incidental intraoperative finding in a 68 year old patient]
[Female pseudohermaphroditism]
[Surgical correction of genital virilization in girls with congenital adrenal hyperplasia]
Abortion, Spontaneous
Major histocompatibility complex located complement C4 and steroid 21-hydroxylase gene rearrangements in couples with recurrent spontaneous abortions.
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency.
Pregnancy in Congenital Adrenal Hyperplasia.
Acanthosis Nigricans
Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report.
Acidosis
Genetic structure of the Greek gypsies.
Acidosis, Renal Tubular
Genetic structure of the Greek gypsies.
Acne Vulgaris
Adrenocortical hydroxylase deficiencies in acne vulgaris.
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne.
Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study.
Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.
The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China.
The frequency of 21-alpha hydroxylase enzyme deficiency and related sex hormones in Iraqi healthy male subjects versus patients with acne vulgaris.
The incidence of non-classical 21-hydroxylase deficiency in hirsute adolescent girls.
The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both.
[Acne and hormones]
Acromegaly
Endocrinology Update: Hirsutism.
Addison Disease
21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
21-hydroxylase autoantibody-negative Addison's disease in a 5-year-old boy with adrenal crisis and type 1 diabetes mellitus.
21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison's disease.
21-Hydroxylase, a major autoantigen in idiopathic Addison's disease.
A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase.
A study of the epitopes on steroid 21-hydroxylase recognized by autoantibodies in patients with or without Addison's disease.
Addison Disease: The First Presentation of the Condition May be at Autopsy.
Adrenal autoantibodies and organ-specific autoimmunity in patients with Addison's disease.
Adrenal-cortex autoantibodies and steroid-producing cells autoantibodies in patients with Addison's disease: comparison of immunofluorescence and immunoprecipitation assays.
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease.
Analysis of the interaction between human steroid 21-hydroxylase and various monoclonal antibodies using comparative structural modelling.
Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1.
Autoantibodies against CYP2D6 and other drug-metabolizing enzymes in autoimmune hepatitis type 2.
Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III.
Autoantibodies in autoimmune polyendocrine syndrome type II.
Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II.
Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease.
Autoantibody "subspecificity" in type 1 diabetes: risk for organ-specific autoimmunity clusters in distinct groups.
Autoantibody epitope mapping of the 21-hydroxylase antigen in autoimmune Addison's disease.
Autoimmune Addison's disease and 21-hydroxylase.
Autoimmune Addison's disease--evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency.
Autoimmune Addison's disease.
Autoimmune Addison's disease. Analysis of autoantibody binding sites on human steroid 21-hydroxylase.
Autoimmune adrenal insufficiency: recognition and management.
Characterization of adrenal autoantigens recognized by sera from patients with autoimmune polyglandular syndrome (APS) type I.
Concomitant presentation of IgG4-negative idiopathic retroperitoneal fibrosis and Addison's disease.
CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles.
Determination of 21-hydroxylase autoantibodies: inter-laboratory concordance in the Euradrenal International Serum Exchange Program.
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.
DRB1*04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease.
Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population.
Epidemiologic study of adrenal gland disorders in Japan.
Expression of the addisonian autoantigen in human adrenal tumors.
Genetic defects in pediatric-onset adrenal insufficiency in Japan.
Genetic determinants of 21-hydroxylase autoantibodies amongst patients of the type 1 diabetes genetics consortium.
High diagnostic accuracy for idiopathic Addison's disease with a sensitive radiobinding assay for autoantibodies against recombinant human 21-hydroxylase.
HLA similarities indicate shared genetic risk in 21-hydroxylase autoantibody positive South African and United States Addison's disease.
Homozygosity of the Polymorphism MICA5.1 Identifies Extreme Risk of Progression to Overt Adrenal Insufficiency among 21-Hydroxylase Antibody-Positive Patients with Type 1 Diabetes.
Hyperkalemia in a patient with myasthenia gravis: case presentation.
I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease.
Identification of the main gonadal autoantigens in patients with adrenal insufficiency and associated ovarian failure.
II. Adrenal cortex and steroid 21-hydroxylase autoantibodies in children with organ-specific autoimmune diseases: markers of high progression to clinical Addison's disease.
Immunological cross-reactivity to multiple autoantigens in patients with liver kidney microsomal type 1 autoimmune hepatitis.
Immunology of Addison's disease and premature ovarian failure.
Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases.
Interleukin-2 and subunit alpha of its soluble receptor in autoimmune Addison's disease - An association study and expression analysis.
Levels of adrenocortical autoantibodies correlate with the degree of adrenal dysfunction in subjects with preclinical Addison's disease.
Low dose (1 microg) ACTH test in the evaluation of adrenal dysfunction in pre-clinical Addison's disease.
Major histocompatibility complex class II and III in Addison's disease. MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility.
Mapping of B cell epitopes on steroid 17 alpha-hydroxylase, an autoantigen in autoimmune polyglandular syndrome type I.
Measuring adrenal autoantibody response: Interlaboratory concordance in the first international serum exchange for the determination of 21-hydroxylase autoantibodies.
Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease.
NONCLASSICAL 21-HYDROXYLASE DEFICIENCY PRESENTED AS ADDISON'S DISEASE AND BILATERAL ADRENAL INCIDENTALOMAS.
Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.
Pathogenesis of primary adrenal insufficiency.
Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.
Predicting the Onset of Addison's Disease: ACTH, Renin, Cortisol, and 21-hydroxylase Autoantibodies.
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.
Prevalence of adrenal antibodies in Addison's disease among north Indian Caucasians.
Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.
Screening for X-linked adrenoleukodystrophy among adult males with Addison's disease.
Secondary amenorrhoea associated with high serum 17-hydroxyprogesterone levels revealing a heterozygous CYP21A2 mutation in a woman with Addison disease.
Steroid 21-hydroxylase autoantibodies in insulin-dependent diabetes mellitus. Childhood Diabetes in Finland (DiMe) Study Group.
Steroid 21-hydroxylase autoantibodies: measurements with a new immunoprecipitation assay.
Steroid 21-hydroxylase gene polymorphism in Addison's disease patients.
Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease.
T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency.
Target proteins in human autoimmunity: cytochromes P450 and UDP- glucuronosyltransferases.
The genetics of autoimmune polyendocrine syndrome type II.
THE NATURAL HISTORY OF AUTOIMMUNE ADDISON'S DISEASE FROM THE DETECTION OF AUTOANTIBODIES TO DEVELOPMENT OF THE DISEASE: A LONG FOLLOW-UP STUDY ON 143 PATIENTS.
The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: The major autoantigen in autoimmune Addison's disease.
The substrate-binding domain of 21-hydroxylase, the main autoantigen in autoimmune Addison's disease, is an immunodominant T cell epitope.
Time course of 21-hydroxylase antibodies and long-term remission of subclinical autoimmune adrenalitis after corticosteroid therapy: case report.
Type II polyglandular autoimmune syndrome: a case of Addison's disease precipitated by use of levothyroxine.
[21-hydroxylase autoantibodies as a marker of adrenal involvement in patients with autoimmune endocrinopathies]
[Adrenal myelolipoma]
[Newborn infants of mothers with endocrinopathies]
[Primary adrenal insufficiency in adults: 150 years after Addison]
Adenocarcinoma
Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium.
Adenoma
A case of Cushing's syndrome due to bilateral cortisol-secreting adenomas with unilateral DHEAS oversecretion.
A case of silent 21-hydroxylase deficiency with persistent adrenal insufficiency after removal of an adrenal incidentaloma.
ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma.
ACTH-independent macronodular adrenocortical hyperplasia: immunohistochemical and in situ hybridization studies of steroidogenic enzymes.
Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia.
Adrenocortical adenoma associated with inadequately treated congenital adrenal hyperplasia.
Adrenocortical tumor in a patient with untreated congenital adrenocortical hyperplasia owing to 21-hydroxylase deficiency: characterization of steroidogenic lesions.
Clinical characteristics of primary hyperaldosteronism due to adrenal microadenoma.
Decreased levels of steroid 21-hydroxylase [P450(c21)] and its mRNA in an adrenocortical adenoma associated with 21-hydroxylase deficiency.
Disordered expression of adrenal steroidogenic P450 mRNAs in incidentally discovered nonfunctioning adrenal adenoma.
Expression of steroidogenic enzyme messenger ribonucleic acids and corticosteroid production in aldosterone-producing and "nonfunctioning" adrenal adenomas.
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
Increased plasma 17-hydroxyprogesterone response to ACTH in patients with nonhyperfunctioning adrenal adenomas is not due to a deficiency in 21-hydroxylase activity.
Ovarian suppression with triptorelin and adrenal stimulation with adrenocorticotropin in functional hyperadrogenism: role of adrenal and ovarian cytochrome P450c17 alpha.
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
Steroid biosynthesis in human adrenal tumors.
Testosterone-secreting virilizing adrenal adenoma with human chorionic gonadotrophin receptors and 21-hydroxylase deficiency.
Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
[A case of virilizing adrenal cortical adenoma whose steroid profile evokes a partial 21-hydroxylase deficiency (author's transl)]
[Image diagnosis of adrenal disorders. III. "Nonfunctioning" adrenal adenoma, weak mineralocorticoids producing adrenal carcinoma, congenital adrenogenital syndrome due to 21-hydroxylase deficiency--simple virilizing form, and pheochromocytoma]
Adrenal Cortex Neoplasms
[A simple method for the estimation of a urinary steroids profile using glass capillary gas chromatography with a solventless injection system]
Adrenal Gland Neoplasms
The modification and expression of 21-hydroxylase gene in normal human adrenal gland and adrenal cancer.
Adrenal Hyperplasia, Congenital
-
"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia.
'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population.
'Exaggerated adrenarche' in children presenting with premature adrenarche.
17-Hydroxyprogesterone response to ACTH in bilateral and monolateral adrenal incidentalomas.
17OH-progesterone response to acute dexamethasone administration in congenital adrenal hyperplasia.
2+0 CYP21A2 deletion carrier - a limitation of the genetic testing and counseling: A case report.
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
21-hydroxylase deficiency congenital adrenal hyperplasia.
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
21-Hydroxylase deficiency: from molecular genetics to clinical presentation.
21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.
3 alpha-androstanediol glucuronide in virilizing congenital adrenal hyperplasia: a useful serum metabolic marker of integrated adrenal androgen secretion.
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.
46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: association or coincidence?
A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation.
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
A 42-year-old man presented with adrenal incidentaloma due to non-classic congenital adrenal hyperplasia with a novel CYP21A2 mutation.
A Case of 11beta-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS.
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
A case of congenital adrenal hyperplasia with concomitant abnormalities of steroid 21- and 11 beta-hydroxylase activities.
A case of recurrent labial adhesions in a 15-month-old child with asymptomatic non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency.
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.
A Comparative Study of Sexual Experiences: Women with Diabetes and Women with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency.
A Cross-Section Study of the Ontogeny of Gender Roles in Women with DSD.
A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.
A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.
A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia.
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
A neonatal mass-screening for congenital adrenal hyperplasia in Japan.
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia.
A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.
A novel 9?bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.
A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia.
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family.
A novel function of CYP21A2 in regulating cell migration and invasion via Wnt signaling.
A novel homozygous CYP19A1 gene mutation: Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation.
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.
A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.
A paradox: elevated 21-hydroxypregnenolone production in newborns with 21-hydroxylase deficiency.
A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region.
A pilot study on CYP21 gene deletions among a cohort of Sri Lankan children with congenital adrenal hyperplasia
A posterior-based omega-shaped flap vaginoplasty in girls with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
A practical approach to the diagnosis of polycystic ovary syndrome.
A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia.
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
A rare duplicated 21-hydroxylase haplotype and a de novo mutation: a family analysis.
A rare TaqI polymorphism in a human complement C4 gene is caused by an additional restriction site in the first intron.
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
A Retrospective Analysis of the Growth Pattern in Patients with Salt-wasting 21-Hydroxylase Deficiency.
A SEQUENCE VARIATION IN 3'UTR OF CYP21A2 GENE CORRELATES WITH A MILD FORM OF CONGENITAL ADRENAL HYPERPLASIA.
A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency.
A test for heterozygocity of 21-hydroxylase deficiency: preliminary report.
A Three-dimensional Structure of Steroid 21-Hydroxylase (Cytochrome P450 21A2) with Two Substrates Reveals Locations of Disease-associated Variants.
A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
A woman with salt-wasting congenital adrenal hyperplasia presenting with a mucinous ovarian cystadenoma during pregnancy.
Abnormalities of various serum enzyme activities in patients with congenital adrenal hyperplasia.
Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.
Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report.
Accelerated dental development as a presenting symptom of 21-hydroxylase deficient nonclassic congenital adrenal hyperplasia.
ACTH receptor blockade: a novel approach to treat congenital adrenal hyperplasia, or Cushing's disease.
Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight.
Adiponectin levels are high in children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
Adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency have vascular dysfunction.
Adrenal 21-hydroxylase deficiency in childhood: 25 years' experience.
Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.
Adrenal disease in pregnancy.
Adrenal incidentalomas: adrenal hemangioma in a patient with congenital adrenal hyperplasia.
Adrenal myelolipoma associated with endocrine dysfunction: review of the literature.
Adrenal Myelolipomas in Patients with Congenital Adrenal Hyperplasia: Review of the Literature and a Case Report.
Adrenal nodules in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: regression after adequate hormonal control.
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.
Adrenal steroidogenic defects in children with precocious pubarche.
Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia.
Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia.
Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenarche does not occur in treated patients with congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Adrenocortical tumor in a patient with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.
Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.
Adrenomedullary Function in Patients with Nonclassic Congenital Adrenal Hyperplasia.
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.
Adult consequences of congenital adrenal hyperplasia.
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease.
Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects.
Age of appearance of circadian rhythm in blood 17-hydroxyprogesterone in 21-hydroxylase deficiency.
Age-related changes in adrenal size during the first year of life in normal newborns, infants and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: comparison of ultrasound and hormonal parameters.
Age-specific changes in sex steroid biosynthesis and sex development.
Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency.
Aldosterone synthase deficiency and related disorders.
Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia.
Allele-dropout using PCR-based diagnosis for the splicing mutation in intron-2 of the CYP21B-gene: successful amplification with a Taq/Pwo-polymerase mixture.
Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
Ambiguous genitalia in the newborn.
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
Amniotic 17-alpha hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-alpha hydroxylase deficiency--congenital adrenal hyperplasia.
Amniotic fluid 17-hydroxyprogesterone in early pregnancy.
Amniotic fluid levels of 17 alpha-hydroxyprogesterone during human pregnancy: pre-natal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
An acth-secreting pituitary tumour arising in a patient with congenital adrenal hyperplasia.
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.
An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.
An unusual case of secondary amenorrhoea.
An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
An update to 21-hydroxylase deficient congenital adrenal hyperplasia.
Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring.
Analysis of 52 C19 and C21 steroids by UPC2-MS/MS: Characterising the C11-oxy steroid metabolome in serum.
Analysis of Four Common Salt-Wasting Mutations in CYP21 (Steroid 21-Hydroxylase) by Cleavase Fragment Length Polymorphism Analysis and Characterization of a Frequent Polymorphism in Intron 6.
Analysis of mutations causing steroid 21-hydroxylase deficiency.
Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China.
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.
Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia.
Androgen synthesis in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Androglottia in a young female adolescent with congenital adrenal hyperplasia and 21-hydroxylase deficiency.
Angiotensin and adrenal steroidogenesis: study of 21-hydroxylase-deficient congenital adrenal hyperplasia.
Antenatal diagnosis of congenital adrenal hyperplasia.
Antenatal treatment for classic 21-hydroxylase forms of congenital adrenal hyperplasia and the issues.
Antipyrine clearance in congenital adrenal hyperplasia.
Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia.
Application of Principal Component Analysis to Newborn Screening for Congenital Adrenal Hyperplasia.
Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Approach to the patient: the adult with congenital adrenal hyperplasia.
Aromatase Inhibitor Increases the Height of Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Ascertainment of 21-hydroxylase deficiency in individuals with HLA-B14 haplotype.
Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm.
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
Assisted Reproduction in Congenital Adrenal Hyperplasia.
Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population.
Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.
Attenuated forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Audit of care of patients with congenital adrenal hyperplasia due to 21-Hydroxylase deficiency in a referral hospital in South India.
Augmented 17 alpha-hydroxyprogesterone response to ACTH stimulation as evidence of decreased 21-hydroxylase activity in patients with incidentally discovered adrenal tumours ('incidentalomas').
Automated, fast and sensitive quantification of 17 alpha-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction.
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Behavioral effects of prenatal versus postnatal androgen excess in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.
Bilateral adrenalectomy for severe hypertension in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency: Long term follow-up.
Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency.
Bilateral testicular tumors in congenital adrenal hyperplasia.
Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Biochemical and genetic diagnosis of 21-hydroxylase deficiency.
Biochemical aspects of congenital adrenal hyperplasia.
Bioelectrical Impedance Phase Angle and Its Determinants in Patients with Classic Congenital Adrenal Hyperplasia.
Birth Sizes of Neonates with Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency.
Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
Blood pressure in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Blood Pressure in the First Year of Life in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: A Pilot Study.
Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age.
Blunted adrenarche in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Bone density in young patients with congenital adrenal hyperplasia.
Bone growth oscillation: longitudinal metabolic process of bone growth in congenital adrenal hyperplasia and nonendocrine short stature.
Bone Mass in Young Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Bone mineral density in girls with classical congenital adrenal hyperplasia due to CYP21 deficiency.
Bone mineral status in Egyptian children with classic congenital adrenal hyperplasia. A single-center study from Upper Egypt.
Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.
Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency.
Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia.
Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.
Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular dysfunction risk in young adults with congenital adrenal hyperplasia caused by 21-hydroxylase enzyme deficiency.
Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.
Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.
Challenges in Prenatal Treatment with Dexamethasone.
Changes of several adrenal delta 4-steroids measured by HPLC-UV spectrometry in neonatal patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia.
Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report.
Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.
Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density.
Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults.
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia.
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Clinical audit concerning the quality of management in patients with classic form of congenital adrenal hyperplasia.
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era.
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche.
Clinical forms of congenital adrenal hyperplasia: restriction length polypmorphism patterns in the CYP21 gene.
Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes.
Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families.
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
Cloning and expression of cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation.
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
Cognitive Outcome in Adult Women Affected by Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cold stress and congenital adrenal hyperplasia heterozygotes.
Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Comments to "A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
Comments to “a rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency”.
Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia.
Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Comparison of separation techniques in radioimmunoassays for 17-hydroxyprogesterone.
Comparison of three commercial assays for the measurement of 17alpha-hydroxyprogesterone (17alpha-OHPR): limitations of the quality control system.
Comparison of two different radioimmunoassays to measure 17-hydroxyprogesterone during treatment monitoring of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Compensatory maturational deceleration of growth or "catch-down growth" in patients with congenital adrenal hyperplasia after delayed initiation of therapy.
Complement C4 allotypes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: further evidence for different allelic variants at the 21-hydroxylase locus.
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia.
Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.
Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia.
Comprehensive Mutation Analysis of the CYP21A2 Gene: An Efficient Multistep Approach to the Molecular Diagnosis of Congenital Adrenal Hyperplasia.
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency.
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?
Congenital adrenal hyperplasia and pregnancy.
Congenital adrenal hyperplasia and the function of adrenal medulla.
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists.
Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems.
Congenital adrenal hyperplasia caused by defect in steroid 21-hydroxylase. Establishment of definitive urinary steroid excretion pattern during first weeks of life.
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.
Congenital adrenal hyperplasia diagnosed in a man during workup for bilateral adrenal masses.
Congenital adrenal hyperplasia diagnosed in a middle-aged woman.
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--the adult woman.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review of current knowledge.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty.
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.
Congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency. A study of five cases.
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Congenital adrenal hyperplasia family studies using the short ACTH test.
Congenital adrenal hyperplasia in adolescents: diagnosis and management.
Congenital adrenal hyperplasia in adults.
Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores.
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Growth, development, and therapeutic considerations.
Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency.
Congenital adrenal hyperplasia presenting as pelvic inflammatory disease in a phenotypic male: A case report.
Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report.
Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?
Congenital adrenal hyperplasia.
Congenital Adrenal Hyperplasia.
Congenital adrenal hyperplasia.
Congenital adrenal hyperplasia. Plasma and urinary steroid conjugates in seven children with steroid 21-hydroxylase deficiency.
Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy.
Congenital adrenal hyperplasia: an update in children.
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment.
Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.
Congenital adrenal hyperplasia: management during critical illness.
Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency.
Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.
Congenital adrenal hyperplasia: phenotype and genotype.
Congenital adrenal hyperplasia: renin and steroid values during treatment.
Congenital Adrenal Hyperplasia: Review from a Surgeon's Perspective in the Beginning of the Twenty-First Century.
Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy.
Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.
Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol.
Congenital Adrenal Hyperplasia: Unresolved Issues.
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Consanguinity in question in two patients with congenital adrenal hyperplasia who bear an identical first and last name--second look.
Continuous subcutaneous hydrocortisone infusion (CSHI) in a young adolescent with congenital adrenal hyperplasia (CAH).
Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish.
Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.
Current status of neonatal screening for congenital adrenal hyperplasia.
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
CYP21 mutations and congenital adrenal hyperplasia.
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
CYP21 mutations in simple virilizing congenital adrenal hyperplasia.
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
CYP21A2 gene mutation in South Indian children with congenital adrenal hyperplasia.
CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children.
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia.
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay.
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica.
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
Daily profiles of salivary cortisol in hydrocortisone treated children with congenital adrenal hyperplasia.
Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene.
Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients.
de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.
Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
Decreased bone mineral density and vertebral compression fractures in a young adult male with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH): is CAH an unrecognized population at risk for glucocorticoid-induced osteoporosis?
Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia.
Dehydroepiandrosterone induces a neuroendocrine phenotype in nerve growth factor-stimulated chromaffin pheochromocytoma PC12 cells.
Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening.
Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency.
Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism.
Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in macedonian patients with congenital adrenal hyperplasia and their relatives.
Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.
Detection of heterozygotes for congenital adrenal hyperplasia: 21-hydroxylase deficiency-a comparison of HLA typing and 17-OH progesterone response to ACTH infusion.
Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents.
Detection of late-onset 21-hydroxylase deficiency congenital adrenal hyperplasia in adolescents.
Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization.
Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
Detection of the heterozygous state in siblings of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis.
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.
Development of a direct fluoroimmunoassay for serum levels of 17-hydroxyprogesterone.
Development of a direct [125I]radioimmunoassay for serum levels of 17-hydroxyprogesterone.
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Dexamethasone Induces Germ Cell Apoptosis in the Human Fetal Ovary.
Dexamethasone treatment of congenital adrenal hyperplasia in utero: an experimental therapy of unproven safety.
Diagnosis and management of congenital adrenal hyperplasia.
Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroids.
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
Difference in transcriptional activity of two homologous CYP21A genes.
Different states of clinical control are associated with changes in IGF-I and IGFBPs in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.
Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Disorders of sex development and female reproductive capacity: A literature review.
Disproportionate suppression of dehydroepiandrosterone sulfate (DHEAS) in treated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Dissociation of plasma renin activity and plasma aldosterone level during dexamethasone suppression test in non-salt-losers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Distribution of the V281L mutation of the CYP21 gene in Israeli congenital adrenal hyperplasia patients and its association with HLA- B14.
Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia.
Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Diversity of the CYP21P-like gene in CYP21 deficiency.
DNA and RNA analysis of cytochrome P-450 21-hydroxylase: transcriptional activity in congenital adrenal hyperplasia.
DNA polymorphism unique for a complotype with deletion of HLA-linked C4B and 21-hydroxylase B genes causing congenital adrenal hyperplasia.
Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency?
Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency.
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.
Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Early diagnosis of congenital adrenal hyperplasia by measurement of 17-hydroxyprogesterone.
Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes.
Ectopic adrenal rests in congenital adrenal hyperplasia as a cause of androgen excess after adrenalectomy detected by pelvic venous sampling.
Effect of aminoglutethimide on urinary steroid excretion in patients with congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency.
Effect of androgen excess and glucocorticoid exposure on metabolic risk profiles in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Effect of carbenoxolone on the plasma renin activity and hypothalamic-pituitary-adrenal axis in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis.
Effect of cortisol treatment on hormonal relationships in congenital adrenal hyperplasia.
Effect of hydrocortisone dose schedule on adrenal steroid secretion in congenital adrenal hyperplasia.
Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia.
Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
Efficacy and safety of prenatal dexamethasone treatment in offspring at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A systematic review and meta-analysis.
Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.
Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Endocrinologic and psychologic evaluation of 21-hydroxylase deficiency carriers and matched normal subjects: evidence for physical and/or psychologic vulnerability to stress.
Energy Expenditure in 21-Hydroxylase Congenital Adrenal Hyperplasia Patients and Comparison with Predictive Equations.
Enzyme immunoassay for plasma renin activity: II. Clinical application.
Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 - A Study of 365 Children and Adolescents.
Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.
Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients.
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience.
Evaluating the accuracy of Malformations Surveillance Program in detecting virilization due to congenital adrenal hyperplasia.
Everything the pediatrician ever wanted to know about HLA but was afraid to ask.
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia.
Excess weight and precocious pubarche in children: alterations of the adrenocortical hormones.
Exchangeable sodium and aldosterone secretion in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Executive functioning in children with congenital adrenal hyperplasia.
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Experts' Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency - Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No.?174/013, July 2015).
Expression and functional study of wild-type and mutant human cytochrome P450c21 in Saccharomyces cerevisiae.
Expression of human 21-hydroxylase (P450c21) in bacterial and mammalian cells: a system to characterize normal and mutant enzymes.
Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3?-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Extensive clinical experience: nonclassical 21-hydroxylase deficiency.
Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.
Extraadrenal steroid 21-hydroxylase activity in a woman with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Extraovarian steroid cell tumor 'not otherwise specified' as a rare cause of virilization in twelve-year-old girl.
Failure of steroid replacement to consistently normalize pituitary function in congenital adrenal hyperplasia: hormonal and MRI data.
False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.
Familial hypersecretion of adrenal androgens transmitted as a dominant, non-HLA linked trait.
Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands.
Fat Distribution and Lipid Profile of Young Adults with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Enzyme Deficiency.
Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening.
Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia.
Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium.
Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year-old female with congenital adrenal hyperplasia.
Fertility and pregnancy outcome in a woman with classic congenital adrenal hyperplasia.
Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Final Adult Height in Children with Congenital Adrenal Hyperplasia Treated with Growth Hormone.
Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience.
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.
First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.
First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).
Five patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (one with associated neuroblastoma) discovered in three generations of one family.
Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia.
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency.
Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states.
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
Frequent deletion and duplication of the steroid 21-hydroxylase genes.
Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia.
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of Congenital Adrenal Hyperplasia.
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
Functional and structural analysis of four novel mutations of CYP21A2 gene in italian patients with 21-hydroxylase deficiency.
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia.
Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Functional studies of novel mutations in CYP21A2 detected in Norwegian patients with congenital adrenal hyperplasia.
Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene.
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
Gender assignment for children with intersex problems: An Egyptian perspective.
Gender Dichotomy in Long Term Growth Trajectories of Children with 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
Gender related differences in glucocorticoid therapy and growth outcomes among pubertal children with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH).
Gender role across development in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population.
Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein.
Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types.
Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Genetic aetiology of primary adrenal insufficiency in Chinese children.
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21.
Genetic analysis of the steroid 21-hydroxylase gene following in vitro amplification of genomic DNA.
Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.
Genetic aspects of congenital adrenal hyperplasia.
Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21.
Genetic diseases of steroid metabolism.
Genetic disorders of adrenal hormone synthesis.
Genetic linkage and HLA association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.
Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades.
Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia.
Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genotype, Phenotype and Hormonal Levels Correlation in Nonclassical Congenital Adrenal Hyperplasia.
Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.
Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia.
Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba.
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.
Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia.
Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.
Gestational age correlates to genotype in girls with CYP21 deficiency.
Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma.
Giant Bilateral Symptomatic Adrenal Myelolipomas Associated with Congenital Adrenal Hyperplasia.
Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia.
Glucocorticoid receptors in patients with congenital adrenal hyperplasia.
Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation, and fertility.
Glucocorticoid-induced increase in lymphocytic FKBP51 messenger ribonucleic acid expression: a potential marker for glucocorticoid sensitivity, potency, and bioavailability.
Glucocorticoid-induced osteoporosis in children with 21-hydroxylase deficiency.
Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia.
Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Growth and reproductive outcomes in congenital adrenal hyperplasia.
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
Growth in disorders of adrenal hyperfunction.
Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
Growth of a progesterone receptor-positive meningioma in a female patient with congenital adrenal hyperplasia.
Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy.
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.
Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency).
Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study.
Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis.
Height outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Evidence from recent data.
Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia.
Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.
High 17-hydroxyprogesterone level in newborn screening test for congenital adrenal hyperplasia.
High carrier frequency of 21-hydroxylase deficiency in Cyprus.
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
High frequency of splice site mutation in 21-hydroxylase deficiency children.
High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.
High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia.
High-resolution melting curve (HRM) analysis to establish CYP21A2 mutations converted from the CYP21A1P in congenital adrenal hyperplasia.
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.
Hirsutism in the United Arab Emirates: a hospital study.
Historical milestones in endocrinology.
HLA and hormonal data for identification of heterozygotes in 11 beta- and 17 alpha-hydroxylase deficiency syndromes.
HLA associations in patients with polycystic ovaries and in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency.
HLA haplotypes and hormonal studies in 25 Italian families of patients with classical and non-classical 21-OH deficiency.
HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency.
HLA linkage to 21-hydroxylase congenital adrenal hyperplasia.
HLA typing and ACTH stimulation in the detection of carriers for 21-hydroxylase deficiency.
HLA typing of patients with 21-hydroxylase deficiency in Iranian children with congenital adrenal hyperplasia.
HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH.
HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.
Home monitoring of 17 hydroxyprogesterone levels in congenitx127drenal hyperplasia with filter paper blood samples.
Hormonal and clinical responses to prednisone treatment in adolescents with congenital adrenal hyperplasia.
Hormonal phenotype and HLA-genotype in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency).
Hormonal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
How can molecular biology contribute to the management of congenital adrenal hyperplasia?
Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE.
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect.
Hyperandrogenism due to 3 beta-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: a hormonal and metabolic evaluation.
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone.
Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with Simple Virilizing form of congenital adrenal hyperplasia.
Identification of 15 beta-hydroxylated C21 steroids in the neo-natal period: the role of 3 alpha,15 beta,17 alpha-trihydroxy-5 beta-pregnan-20-one in the perinatal diagnosis of congenital adrenal hyperplasia (CAH) due to a 21-hydroxylase deficiency.
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. Online.
Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese.
Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.
Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.
Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes.
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche.
Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47,DR7 haplotype.
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
Imaging features of poorly controlled congenital adrenal hyperplasia in adults.
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency.
Impaired mineralocorticoid hormone responses to adrenocorticotropin stimulation: additional characterization of heterozygosity for the 21-hydroxylase deficiency type of congenital adrenal hyperplasia.
Impairment in anthropometric parameters and body composition in females with classical 21-hydroxylase deficiency.
Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand.
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.
In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS).
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
Inadequate testosterone suppression after medical and subsequent surgical castration in a patient with prostate cancer.
Increased Abdominal Adiposity in Adolescents and Young Adults With Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Increased Liver Enzymes in Adult Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Increased plasma 21-deoxycorticosterone (21-DB) levels in late-onset adrenal 21-hydroxylase deficiency suggest a mild defect of the mineralocorticoid pathway.
Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas.
Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Increased salt appetite in patients with congenital adrenal hyperplasia 21-hydroxylase deficiency.
Increased urinary excretion of total 16 alpha-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia.
Infant with classic congenital adrenal hyperplasia (CAH) born to a mother with classic CAH.
Infertility and bilateral adrenal tumors.
Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia.
Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.
Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia.
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
Influence of hormones on the immunotolerogenic molecule HLA-G: a cross-sectional study in patients with congenital adrenal hyperplasia.
Intelligence of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, their parents and unaffected siblings.
Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.
Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?
Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
Lack of correlation between sex hormone binding globulin and free testosterone in some cases of "idiopathic" hirsutism.
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
Laparoscopic subtotal hysterectomy and bilateral adnexectomy in a child with congenital adrenal hyperplasia.
Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche.
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.
Late-onset 21-hydroxylase deficiency is an allelic variant of congenital adrenal hyperplasia characterized by attenuated clinical expression and different HLA haplotype associations.
Late-onset adrenal hyperplasia in north Indian hirsute women.
Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.
Leukoencephalopathy in 21-beta hydroxylase deficiency: Report of a family.
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia.
Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency.
Linear growth and pubertal development in treated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Linkage and association between HLA and 21-hydroxylase deficiency.
Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype.
Liver mRNA probes disclose two cytochrome P-450 genes duplicated in tandem with the complement C4 loci of the mouse H-2S region.
Location of the gene for 21-hydroxylase deficiency.
Long term outcome in adult males with classic congenital adrenal hyperplasia.
Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males.
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.
Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia.
Long-term follow-up of a female patient with non-classical 11?-hydroxylase deficiency and two novel mutations in CYP11B1.
Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty.
Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Long-term management of patients with disorders of sex development (DSD).
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Long-Term Outcome of Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.
Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.
Management considerations for the adult with congenital adrenal hyperplasia.
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Management of 21-hydroxylase deficiency congenital adrenal hyperplasia: A survey of Canadian paediatric endocrinologists.
Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation.
Management of CAH during pregnancy: optimizing outcomes.
Management of congenital adrenal hyperplasia using serum dehydroepiandrosterone sulfate and 17-hydroxyprogesterone concentrations.
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy.
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
Management of the adult with congenital adrenal hyperplasia.
Management of the child with congenital adrenal hyperplasia.
Masked high progesterone levels during in vitro fertilization and embryo transfer treatment in a patient with 21-hydroxylase deficiency: A case report.
Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand.
Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.
Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia.
Medical management of adrenal disease: a narrative review.
Menstrual bleeding in a female infant with congenital adrenal hyperplasia: altered maturation of the hypothalamic-pituitary-ovarian axis.
Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Metabolic evaluation of young women with congenital adrenal hyperplasia.
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Metabolic syndrome manifestations in classic congenital adrenal hyperplasia: do they predispose to atherosclerotic cardiovascular disease and secondary polycystic ovary syndrome?
Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
Microsatellite markers in the indirect analysis of the steroid 21-hydroxylase gene.
Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency.
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia.
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.
Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.
Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.
Molecular cloning of steroid 21-hydroxylase.
Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia.
Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.
Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Molecular genetic analysis in 93 patients and 193 family members with Classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in Croatia.
Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia.
Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations.
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras.
Molecular genetics and the characterization of steroid 21-hydroxylase deficiency.
Molecular genetics of 21-hydroxylase deficiency.
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.
Molecular genetics of congenital adrenal hyperplasia.
Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis.
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.
Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene.
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
Multiplex ligation-dependent probe amplification analysis is useful for diagnosing congenital adrenal hyperplasia but requires a deep knowledge of CYP21A2 genetics.
Multiplex ligation-dependent probe amplification assay for diagnosis of congenital adrenal hyperplasia.
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.
Multiplexed steroid profiling of gluco- and mineralocorticoids pathways using a liquid chromatography tandem mass spectrometry method.
Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
Mutation Analysis of the CYP21A2 Gene in the Iranian Population.
Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.
Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia.
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
Mutations in steroid 21-hydroxylase (CYP21).
Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia.
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.
Myelolipoma and endocrine dysfunction.
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.
Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China.
Neonatal salt loss in the hypertensive form of congenital adrenal hyperplasia.
Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-alpha-hydroxyprogesterone assay.
Neonatal screening for congenital adrenal hyperplasia.
Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants.
Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone.
Neonatal screening: identification of children with 11?-hydroxylase deficiency by second-tier testing.
New developments in prenatal diagnosis of congenital adrenal hyperplasia.
New identified 15 beta-hydroxylated 21-deoxy-pregnanes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Newborn screening for congenital adrenal hyperplasia in Wisconsin.
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
No evidence for a difference in 2D:4D ratio between youth with elevated prenatal androgen exposure due to congenital adrenal hyperplasia and controls.
Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society.
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia.
Non-classic congenital adrenal hyperplasia.
Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development.
Non-classical congenital adrenal hyperplasia.
Non-functioning adrenal incidentalomas caused by 21-hydroxylase deficiency or carrier status?
Non-identical newborn twins with congenital adrenal hyperplasia.
Nonclassic 21-hydroxylase deficiency in Croatia.
Nonclassic congenital adrenal hyperplasia and the heterozygote carrier.
Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome.
Nonclassic congenital adrenal hyperplasia.
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
NONCLASSICAL 21-HYDROXYLASE DEFICIENCY PRESENTED AS ADDISON'S DISEASE AND BILATERAL ADRENAL INCIDENTALOMAS.
Nonclassical Congenital Adrenal Hyperplasia and Pregnancy.
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.
Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma.
Nonsense mutation causing steroid 21-hydroxylase deficiency.
Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.
Normal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy.
Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia.
Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis.
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Normal intelligence in female and male patients with congenital adrenal hyperplasia.
Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency.
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency.
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia.
Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia.
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Obesity in 21-hydroxylase deficient patients.
Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report.
Occurrence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia.
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.
Only two amino acid substitutions of I236N and V237E in exon 6 are converted to the CYP21 gene in a Chinese patient with congenital adrenal hyperplasia.
Ontogeny of adrenal steroid biosynthesis: why girls will be girls.
Outcome of congenital adrenal hyperplasia.
Ovarian 'tumor' of the adrenogenital syndrome: the first reported case.
Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy.
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Ovarian Steroid Cell Tumor Masquerading as Steroid-Unresponsive Congenital Adrenal Hyperplasia.
Ovarian steroid cell tumor, not otherwise specified, associated with congenital adrenal hyperplasia: rare tumors of an endocrine disease.
Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency.
Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Overdiagnosis of 21-hydroxylase late onset congenital adrenal hyperplasia: correlation of corticotropin test and human leukocyte antigen typing.
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience.
Patterns of growth from birth to maturity in infants and children with congenital adrenal hyperplasia.
PB-Motif-A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping.
PCR based diagnosis of 21-hydroxylase gene defects in Slovak patients with congenital adrenal hyperplasia.
PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module.
Performance of Phalangeal Quantitative Ultrasound Parameters in the Evaluation of Reduced Bone Mineral Density Assessed By DX in Patients with 21 Hydroxylase Deficiency.
Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.
Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia.
Pharmacological agents in pregnancy to improve fetal conditions: prevention of fetal cardiac insufficiency, consequences of congenital adrenal hyperplasia and respiratory distress syndrome.
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Phenotypic Profiling of Parents with Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families.
Pigmented adrenal hyperplasia with myelolipomatous changes and bilateral testicular enlargement in an untreated man with 21-hydroxylase deficiency.
Pitfall of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Pitfalls of PCR-based genotyping in patients with 21-hydroxylase deficiency.
Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.
Pituitary-adrenal axis activity in treated congenital adrenal hyperplasia: static and dynamic studies.
Pituitary-adrenal responses to corticotropin-releasing hormone in different degrees of adrenal 21-hydroxylase deficiency.
Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Plasma 3 alpha-androstanediol glucuronide in normal children and in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Plasma 3 beta-hydroxy-delta 5-steroids in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Plasma aldosterone concentrations related to 17alpha-hydroxyprogesterone in congenital adrenal hyperplasia.
Plasma levels of androgens and 17 alpha-OH-progesterone as an index of the adequacy of treatment in congenital adrenal hyperplasia.
Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues.
Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency.
Practical management of the intersex infant.
Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity.
Pregnancy in Congenital Adrenal Hyperplasia.
Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.
Premature Adrenarche and its Association with Cardiovascular Risk in Females.
Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene.
Prenatal and early postnatal treatment of congenital adrenal hyperplasia.
Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on midgestational amniotic fluid steroid levels.
Prenatal diagnosis and management of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
Prenatal diagnosis and treatment of 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of adrenogenital syndrome (steroid 21-hydroxylase deficiency).
Prenatal diagnosis and treatment of congenital adrenal hyperplasia and consequences in adults.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency.
Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.
Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid.
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis.
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia.
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH.
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.
Prenatal diagnosis of congenital adrenal hyperplasia caused by p450 oxidoreductase deficiency.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by amniotic fluid steroid analysis.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency with DNA analysis.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Prenatal diagnosis of congenital adrenal hyperplasia.
Prenatal Diagnosis of Congenital Adrenal Hyperplasia.
Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis.
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
Prenatal fetal adrenal suppression following in utero diagnosis of congenital adrenal hyperplasia.
Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency.
Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study.
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a 10 year experience.
Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Prenatal treatment of congenital adrenal hyperplasia-not standard of care.
Prenatal treatment of congenital adrenal hyperplasia.
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.
Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas.
Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study.
Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.
Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia.
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.
Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.
Quantitation of 17-OH-progesterone (OHPG) for diagnosis of congenital adrenal hyperplasia (CAH).
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Radioimmunoassay for 21-deoxycortisol: clinical applications.
Radioimmunoassay of plasma 21-deoxycortisol.
Rapid monitoring assay of congenital adrenal hyperplasia with microbore high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review.
Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
Real-time detection of allele-specific polymerase chain reaction products by automated ultra-thin-layer agarose gel electrophoresis.
Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital.
Reduced need of glucocorticoid therapy in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency during pregnancy.
Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth.
Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency.
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice.
Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia.
Restriction fragment length polymorphism study of families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Taiwan.
Results of the ACTH stimulation test in hirsute women.
Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.
Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: application in congenital adrenal hyperplasia.
Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia.
Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.
Reversible male infertility due to congenital adrenal hyperplasia.
Reversible male infertility in late onset congenital adrenal hyperplasia.
Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.
Risk factors for hospitalization of children with congenital adrenal hyperplasia.
Salivary and plasma androstenedione and 17-hydroxyprogesterone levels in congenital adrenal hyperplasia.
Salivary morning androstenedione and 17?-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia.
Salivary steroid assays - research or routine?
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers.
Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.
Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
Screening for neonatal endocrinopathies: rationale, methods and results.
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia.
Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia.
Sequential use of hydrocortisone and dexamethasone in prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Serum 17-hydroxypregnenolone and 17-hydroxypregnenolone sulfate concentrations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.
Serum 3 alpha-androstanediol glucuronide measurements in children with congenital adrenal hyperplasia.
Serum 3 alpha-androstanediol glucuronide measurements in sexually mature women with congenital adrenal hyperplasia during therapy.
Serum androgen concentrations in neonates and young infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?
Serum cortisol in adrenal hirsutism as estimated by five different methods.
Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment.
Serum Steroid Pro?ling by Liquid Chromatography-Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report.
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum.
Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia.
Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess.
Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review.
Sexual well-being in adult male patients with congenital adrenal hyperplasia.
Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency.
Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Simultaneous analysis of various mutations on the 21-hydroxylase gene by multi-allele specific amplification and capillary gel electrophoresis.
Simultaneous detection of five mutations in the steroid 21-hydroxylase gene using nested allele-specific amplification.
Simultaneous measurement of eight corticosteroids by liquid chromatography, and application of the procedure to diagnosis of congenital adrenal hyperplasia.
Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia.
Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency.
Sonography in neonatal congenital adrenal hyperplasia.
Spatial function in adolescents and young adults with congenital adrenal hyperplasia: Clinical phenotype and implications for the androgen hypothesis.
Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.
Steroid 17-hydroxyprogesterone in hair is a potential long-term biomarker of androgen control in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
Steroid 21-hydroxylase expression and activity in human lymphocytes.
STEROID 21-HYDROXYLASE GENE MUTATIONAL SPECTRUM IN 454 ARGENTINEAN PATIENTS: GENOTYPE-PHENOTYPE CORRELATION IN A LARGE COHORT OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA.
Steroid excretion patterns in urine from two boys in the neonatal period with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
Steroid responses to ACTH in women with polycystic ovaries.
Steroidogenic enzyme expression within the adrenal cortex during early human gestation.
Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives.
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.
Structure and expression of the CYP21 (P450c21, steroid 21-hydroxylase) gene with respect to its deficiency.
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.
Studies of the C-21 and C-19 steroids and HLA genotyping in siblings and parents of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance.
Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency.
Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in sweden.
Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.
Successful pregnancy after the treatment of primary amenorrhea in a patient with non-classical congenital adrenal hyperplasia.
Successful pregnancy in a woman with rare compound heterozygoticity for congenital adrenal hyperplasia; case report.
Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Successful prenatal treatment of congenital adrenal hyperplasia resulting from the 21-hydroxylase deficiency: is prenatal diagnosis in a mother at risk essential?
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency.
Surgical reconstruction of the genitalia in a 3-year-old infant with a 46XX karyotype: case report.
Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans.
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
Temporal and individual variations in the dose of glucocorticoid used for the treatment of salt-losing congenital virilizing adrenal hyperplasia due to 21-hydroxylase deficiency.
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.
Testicular adrenal rest "tumor" or Leydig cell tumor? A report of a challenging case with literature review.
Testicular adrenal rest hyperplasia due to 21-hydroxylase deficiency: a case report.
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies).
Testicular adrenal-like tissue in a patient with 17 alpha-hydroxylase deficiency.
Testicular enlargement in patients with 11-hydroxylase deficiency.
Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins.
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue.
The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction.
The 21-hydroxylase activity in the glomerulosa and fasciculata of the adrenal cortex in congenital adrenal hyperplasia.
The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás.
The attenuated form of congenital adrenal hyperplasia as an allelic form of 21-hydroxylase deficiency.
The balance of cortisol-cortisone interconversion is shifted towards cortisol in neonates with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The biochemical basis for genotyping 21-hydroxylase deficiency.
The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.
The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.
The early recognition of the 21-hydroxylase deficiency variety of congenital adrenal hyperplasia.
The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia.
The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given.
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.
The frequency of 21-alpha hydroxylase enzyme deficiency and related sex hormones in Iraqi healthy male subjects versus patients with acne vulgaris.
The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
The HLA associations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a Yugoslav population.
The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region.
The hypothalamic-pituitary-adrenal axis in partial (late-onset) 21-hydroxylase deficiency.
The impact of 21-hydroxylase deficiency on cardiac repolarization changes in children with 21-hydroxylasedeficient congenital adrenal hyperplasia.
The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family.
The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH).
The Importance of Heteroduplexes in Interpreting the Results of PCR-RED Diagnostic Assays: Application to the Analysis of Mutations in the Steroid 21-Hydroxylase Gene in a Case of Congenital Adrenal Hyperplasia.
The in vitro metabolism of 11?-hydroxyprogesterone and 11-ketoprogesterone to 11-ketodihydrotestosterone in the backdoor pathway.
The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women.
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
The influence of prenatal dexamethasone treatment on urinary excretion of adrenocortical steroids in newborns.
The investigation of adrenocortical disorders.
The management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The measurement of 11 beta-hydroxy-4-pregnene-3,20-dione (21-deoxycorticosterone) by radioimmunoassay in human plasma.
The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
The ratio of androstenedione:11 beta-hydroxyandrostenedione is an important marker of adrenal androgen excess in women.
The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The Recalled Childhood Gender Questionnaire-Revised: a psychometric analysis in a sample of women with congenital adrenal hyperplasia.
The relationship of carotid intima-media thickness with anthropometric and metabolic parameters in patients with classic congenital adrenal hyperplasia
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions.
The role of heterozygosity for CYP21 in the polycystic ovary syndrome.
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.
The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort.
The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia.
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
Theca function in polycystic ovaries of a patient with virilizing congenital adrenal hyperplasia.
Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Tildacerfont in Adults with Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.
Total urogenital mobilization by CAH: A step-by-step illustration of the technique.
Transient central precocious puberty in non-classic 21-hydroxylase deficiency.
Transition of Care from Childhood to Adulthood: Congenital Adrenal Hyperplasia.
Treatment and health outcomes in adults with congenital adrenal hyperplasia.
Treatment and outcome of congenital adrenal hyperplasia: 21-hydroxylase deficiency.
Treatment of adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a clinical practice audit.
Treatment with flutamide decreases cortisol clearance: implications for therapy in congenital adrenal hyperplasia.
Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report.
Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B.
Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Uniparental disomy as a cause of pediatric endocrine disorders.
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.
Update on adrenal steroid hormone biosynthesis and clinical implications.
Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Urinary 17 alpha-hydroxyprogesterone in management of 21-hydroxylase deficiency.
Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Urinary steroidomic profiles by LC-MS/MS to monitor classic 21-Hydroxylase deficiency.
Use of an aromatase inhibitor in children with congenital adrenal hyperplasia: Impact of anastrozole on bone mineral density and visceral adipose tissue.
Use of Glucocorticoids in Pregnancy.
Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.
Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia.
Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Usefulness of an ACTH test in the diagnosis of nonclassical 21-hydroxylase deficiency among children presenting with premature pubarche.
Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population.
Value of direct measurement of active renin concentrations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency.
Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.
Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine.
What is the best approach to the teenage patient presenting with nonclassical congenital adrenal hyperplasia: should we always treat with glucocorticoids?
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.
Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty?
Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary.
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
[21-Hydroxylase deficiency. Clinical expression of heterozygote carriers in a family]
[A case of adrenal myelolipoma associated with adrenogenital syndrome]
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
[A genetic and hormonal study of 5 patients with the nonclassical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[A method for the quantitative analysis of steroid hormones by HPLC/RIA]
[A molecular method of diagnosis of congenital adrenal hyperplasia]
[Acute adrenal insufficiency in the newborn]
[Acute complications during treatment of virilizing congenital adrenal hyperplasia deficiency due to 21-hydroxylase]
[Adrenal enzyme deficiency]
[Adrenogenital syndrome--diagnosis, treatment and therapeutic control]
[Adrenogenital syndrome: feminizing genital reconstruction]
[Aggravation of salt loss due to hydrocortisone in the first days of treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].
[Analysis of the association of HLA-DQ1 alleles with mutation of the 21-hydroxylase gene in patients with congenital adrenal hyperplasia]
[Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.]
[Analysis of the spectra of mutational damage of the 21-hydroxylase gene in patients with adreno-genital syndrome]
[Anesthetic management of a patient with 21-hydroxylase deficiency]
[Antenatal detection of congenital adrenal hyperplasia. Deficiency of 21-hydroxylase]
[Antenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Association of congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency and bilateral testicular tumor]
[Biochemical markers of congenital adrenal hyperplasia and impaired steroidogenesis].
[Body composition in females with 21-hydroxylase deficiency: comparison of anthropometric methods and bioelectric impedance in relation to a control group].
[Case of salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency and a short stature caused by early closure of epiphyseal lines in spite of steroid replacement therapy]
[Causes of ambiguous external genitalia in neonates]
[Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
[Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study]
[Classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Genetic considerations in light of personal studies]
[Clinical polymorphism of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and HLA phenotype]
[Clinical significance of plasma renin, testosterone, 17-alpha-hydroxyprogesterone and ACTH activities in the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A review of 31 cases]
[Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Congenital adrenal hyperplasia and growth hormone deficiency. Special care in transition to adulthood]
[Congenital adrenal hyperplasia as a result of 21-hydroxylase block. Review of 10 cases]
[Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency]
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: final height in 27 patients with the classical form]
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency]
[Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency]
[Congenital adrenal hyperplasia in the adult women: management of old and new challenges].
[Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis.]
[Congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency]
[Congenital adrenal hyperplasia]
[Congenital adrenogenital syndrome and virilizing adrenocortical tumor in prepuberal females. Problems of diagnosis and therapy in 2 cases of virilization]
[Connection between congenital adrenal hyperplasia due to 21-hydroxylase deficiency and the HLA genotype]
[Consensus statement on diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
[Contemporary diagnosis and therapy in women with congenital adrenal hyperplasia].
[Current concepts in the treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[CYP21 gene point mutations study in 21-hydroxylase deficiency patients]
[Detection of heterozygosity in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the general population]
[Detection of heterozygotes in the classic type of congenital adrenal hyperplasia due to a 21-hydroxylase defect in our population as based on hormonal studies and HLA typing]
[Detection of steroid 21-hydroxylase gene variation among normal Chinese and patients with congenital adrenal hyperplasia]
[Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia].
[Determination of urinary 17 alpha-hydroxyprogesterone excretion using ELISA--evaluation of normal subjects and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Efficacy of letrozole in treatment of children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency].
[Electroencephalographic changes in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Enzyme-induced masculinization]
[Evaluation of salivary 17-hydroxyprogesterone and its clinical usefulness in the study of hirsutism and the partial deficiency of 21-hydroxylase]
[Expression of the human steroid 21-hydroxylase gene and its mutant variant C169R in insect cells and functional analysis of expression products]
[Female pseudohermaphroditism]
[Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Gene heterogeneity in adrenal 21-hydroxylase]
[Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
[Genetic aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Genetic counseling and prenatal diagnosis of adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
[Genetics of congenital adrenal hyperplasia caused by steroid-21-hydroxylase deficiency: present-day aspects]
[Giant bilateral adrenal myelolipoma associated with congenital adrenal hyperplasia.]
[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.]
[Hirsutism secondary to congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency of late onset. A clinical case]
[Hirsutism: differential diagnosis]
[HLA haplotypes in families of children with congenital adrenal hyperplasia]
[Hormonal profile and HLA typing of adult subjects from 7 families with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone]
[Identification of point mutations in the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia]
[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].
[Linkage analysis between HLA and GLOI with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Linkage between congenital adrenal hyperplasia with 21-hydroxylase deficiency and HLA histocompatibility groups]
[Measurement of 17 OH progesterone in blood in Chilean newborns: antecedents for implementing a grogram for the neonatal detection of congenital adrenal hyperplasia]
[Medroxyprogesterone acetate. Contributive treatment in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in children]
[Methods for the analysis of large gene deletions and their application in some hereditary diseases]
[Microsporum canis mycetoma of the scalp]
[Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency]
[Molecular diagnosis of salt wasting congenital adrenal hyperplasia, caused by deficit of 21-hydroxylase, in the Chilean population]
[Molecular genetics of 21-hydroxylase deficiency in congenital adrenal hyperplasia]
[Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family]
[Mutation in the promoter region of 21-hydroxylase gene of patients with congenital adrenal hyperplasia]
[Mutational spectrum of the gene for 21-hydroxylase in the patients with congenital adrenal hyperplasia from Bashkortostan]
[Mutations in 21-hydroxylase gene caused by gene conversion-like events]
[Neonatal mass-screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. I. Microfilter paper methods for radioimmunoassay of 17 alpha-hydroxyprogesterone]
[Neonatal mass-screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. II. A pilot neonatal mass-screening study in the west of Shizuoka Prefecture, Japan]
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1. Enzyme immunoassay of dried blood 17 alpha-hydroxyprogesterone and its application to neonatal screening for congenital adrenal hyperplasia]
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 2. Analysis of steroids with high-performance liquid chromatography for diagnosis of congenital adrenal hyperplasia]
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 3. An enzyme-linked immunosorbent assay for dried blood 17 alpha-hydroxyprogesterone]
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 4. Development of enzyme-linked immunosorbent assay for dried blood cortisol and its application to neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996]
[Newborn infants of mothers with endocrinopathies]
[Newborn screening for congenital adrenal hyperplasia in France].
[Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].
[Nonclassic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency]
[Polycystic ovaries in 2001: physiology and treatment]
[Pregnancy outcomes of eight pregnant women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings]
[Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency]
[Prenatal diagnosis of congenital adrenal hyperplasia due to a 21-hydroxylase defect--determination of 17-hydroxyprogesterone in the amniotic fluid]
[Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 9 treated pregnancies]
[Prevention of sexual ambiguity in children with 21-hydroxylase deficiency by treatment in utero]
[Problems posed by the association of hemophilia A and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report].
[Rare forms of female pseudohermaphroditism: when to investigate?]
[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
[Reevaluation of recalled infants by neonatal mass screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Diagnostic value of pregnanetriolone in a single urine specimen using glass capillary gas chromatography]
[Screening for hereditary diseases. What other screening?]
[Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening.]
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].
[Strategies in screening of nonclassical forms of congenital adrenal hyperplasia caused by P450c21 deficiency in hyperandrogenic women]
[Surgical correction of genital virilization in girls with congenital adrenal hyperplasia]
[Testicular adrenal rests: the role of imaging]
[The alternative androgen synthesis pathway in humans].
[The effect of maternal dexamethasone treatment after the 12th week of pregnancy on fetal genital development in adrenogenital syndrome with 21-hydroxylase deficiency]
[The steroid content of the amniotic fluid in the 1st and 2nd pregnancy trimesters in 21-hydroxylase insufficiency and in fetal central nervous system defects]
[Treatment of adult men with congenital adrenal hyperplasia syndrome due to 21-hydroxylase deficiency]
[Value of the assay of plasma steroids in the control of congenital adrenal hyperplasia]
[Virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: early diagnosis and response to 2 treatment schedules]
[Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: Study of a new case.]
Adrenal Insufficiency
A case of silent 21-hydroxylase deficiency with persistent adrenal insufficiency after removal of an adrenal incidentaloma.
Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: consequence or coincidence?
Adrenal insufficiency: etiology, diagnosis and treatment.
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.
Autoantibodies in autoimmune polyendocrine syndrome type II.
Autoimmune Addison's disease--evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency.
Autoimmunity in isolated Addison's disease and in polyglandular autoimmune diseases type 1, 2 and 4.
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
Congenital adrenal hyperplasia.
Congenital Adrenal Hyperplasia.
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities.
Dehydroepiandrosterone, 17alpha-hydroxyprogesterone and aldosterone responses to the low-dose (1 micro g) ACTH test in subjects with preclinical adrenal autoimmunity.
Homozygosity of the Polymorphism MICA5.1 Identifies Extreme Risk of Progression to Overt Adrenal Insufficiency among 21-Hydroxylase Antibody-Positive Patients with Type 1 Diabetes.
Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Late onset adrenal insufficiency after adrenalectomy due to latent nonclassical 21-hydroxylase deficiency: A case report.
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Primary adrenal lymphoma as a cause of adrenal insufficiency, a report of two cases.
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency.
Screening for neonatal endocrinopathies: rationale, methods and results.
Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.
[A case of bilateral testicular tumors with congenital adrenal hyperplasia]
[Anesthetic management of a patient with 21-hydroxylase deficiency]
[Assessment of autoantibodies against 21-hydroxylase in the diagnosis of primary autoimmune adrenal insufficiency].
Adrenal Rest Tumor
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency.
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.
Abundance of DLK1, differential expression of CYP11B1, CYP21A2 and MC2R, and lack of INSL3 distinguish testicular adrenal rest tumours from Leydig cell tumours.
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency.
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3?-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Production of 11-oxygenated androgens by testicular adrenal rest tumors.
Sexual well-being in adult male patients with congenital adrenal hyperplasia.
Testicular Adrenal Rest Tumor In Brothers With Novel Mutation In 3-Beta Hydroxysteroid Dehydrogenase -2 Gene.
Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up.
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
[Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
[Clinical characteristics of testicular adrenal rest tumor and factors associated with its occurrence in 21-hydroxylase deficiency patients].
Adrenocortical Adenoma
A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
Decreased levels of steroid 21-hydroxylase [P450(c21)] and its mRNA in an adrenocortical adenoma associated with 21-hydroxylase deficiency.
Disordered expression of adrenal steroidogenic P450 mRNAs in incidentally discovered nonfunctioning adrenal adenoma.
Expression of cytochrome P-450 mRNAs in steroidogenesis of adrenocortical adenomas from patients with primary aldosteronism.
Massive adrenocortical adenoma following long-term treatment of 21-hydroxylase deficiency.
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
[A case of virilizing adrenal cortical adenoma whose steroid profile evokes a partial 21-hydroxylase deficiency (author's transl)]
Adrenocortical Carcinoma
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
A feminizing adrenocortical carcinoma in the context of a late onset 21-hydroxylase deficiency.
Effects of 3-MeSO2-DDE and some CYP inhibitors on glucocorticoid steroidogenesis in the H295R human adrenocortical carcinoma cell line.
Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma.
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
Adrenocortical Hyperfunction
Investigative strategy of hyperandrogenism in women.
Adrenogenital Syndrome
Abnormal steroid excretion in gestational trophoblastic disease complicated by ovarian theca-lutein cysts.
Bilateral adrenal myelolipoma associated with adrenogenital syndrome.
Clinical impact of molecular diagnostics in endocrinology. Polymorphisms, mutations and DNA technologies.
Prenatal diagnosis and treatment of adrenogenital syndrome (steroid 21-hydroxylase deficiency).
Prepubertal acne: a cutaneous marker of androgen excess?
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
[Adrenogenital syndrome with 21-hydroxylase deficiency]
[Adrenogenital syndrome. I. Introduction, enzymology and heredity]
[Adrenogenital syndrome. II. Molecular biology]
[Adrenogenital syndrome: feminizing genital reconstruction]
[Chronic suicidality in depression due to untreated adrenogenital syndrome.]
[Congenital adrenogenital syndrome due to 21-hydroxylase deficiency. Pathogenesis, clinical picture, and deliberations over better therapy]
[Congenital adrenogenital syndrome with unusually light 21-hydroxylase deficiency]
[Congenital virilization in a newborn girl of a mother with adrenogenital syndrome due to 21-hydroxylase deficiency]
[Diagnosis and course control of the adrenogenital syndrome of the 21-hydroxylase deficiency type using radioimmunologic demonstration of 17-alpha-hydroxyprogesterone]
[Experiences with specific screening for early detection of congenital adrenogenital syndrome with 21-hydroxylase defect]
[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]
[HL-A associated inheritance of the 21-hydroxylase defect in familial adrenogenital syndrome]
[Image diagnosis of adrenal disorders. III. "Nonfunctioning" adrenal adenoma, weak mineralocorticoids producing adrenal carcinoma, congenital adrenogenital syndrome due to 21-hydroxylase deficiency--simple virilizing form, and pheochromocytoma]
[Neonatal levels of 17-hydroxyprogesterone--early diagnosis of adrenogenital syndrome]
[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency. Position of the Pediatric Endocrinology Study Group of the German Society of Pediatrics and the Section of Pediatric Endocrinology of the German Society of Endocrinology]
[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency]
[Problems of delayed diagnosis of an uncomplicated adrenogenital syndrome (AGS) with 21-hydroxylase defect in a 7-year-old boy]
[The effect of maternal dexamethasone treatment after the 12th week of pregnancy on fetal genital development in adrenogenital syndrome with 21-hydroxylase deficiency]
[Therapeutic problems in the adrenogenital syndrome caused by salt-losing 21-hydroxylase deficiency. Appearance of signs of corticoid overdosage at normally used doses]
[Turner syndrome caused by deletion of the long arm of the X chromosome associated with adrenogenital syndrome caused by partial deficiency of 21-hydroxylase]
Adrenoleukodystrophy
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Alkaptonuria
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Alopecia
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings]
Alzheimer Disease
Association of CYP2D microsatellite polymorphism with Lewy body variant of Alzheimer's disease.
Androgen-Insensitivity Syndrome
A Cross-Section Study of the Ontogeny of Gender Roles in Women with DSD.
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
Disorders of sex development and female reproductive capacity: A literature review.
Isolated transient neonatal clitoromegaly with hyperandrogenism of unknown etiology.
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
Anemia
Delayed diagnosis of infants with abnormal neonatal screens.
Anemia, Sickle Cell
Delayed diagnosis of infants with abnormal neonatal screens.
Anovulation
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
The ratio of androstenedione:11 beta-hydroxyandrostenedione is an important marker of adrenal androgen excess in women.
Antley-Bixler Syndrome Phenotype
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11?-Hydroxyandrosterone.
aromatase deficiency
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Arthritis, Rheumatoid
Cross-talk between T cells and osteoclasts in bone resorption.
Asthma
Alternate day prednisone therapy in congenital adrenal hyperplasia: adrenal androgen suppression and normal growth.
Atherosclerosis
A Favorable Metabolic and Antiatherogenic Profile in Carriers of CYP21A2 Gene Mutations Supports the Theory of a Survival Advantage in This Population.
Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency.
Autoimmune Diseases
21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase.
Autoantibodies in autoimmune polyendocrine syndrome type II.
Clinical and Immunological Characteristics of Autoimmune Addison Disease: A Nationwide Swedish Multicenter Study.
Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis.
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease.
II. Adrenal cortex and steroid 21-hydroxylase autoantibodies in children with organ-specific autoimmune diseases: markers of high progression to clinical Addison's disease.
Immunological pattern in patients with 21-hydroxylase deficiency.
MHC Genomics and Disease: Looking Back to Go Forward.
Prevalence of adrenal antibodies in Addison's disease among north Indian Caucasians.
Recent advances in adrenal autoimmunity.
Azoospermia
Infertility and bilateral adrenal tumors.
Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: case report.
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
Babesiosis
Repression of Hepatic Cytochrome P450 2D Expression in Mice during Babesia microti Infection.
Bartter Syndrome
A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation.
[A case of 21-hydroxylase deficiency and Bartter's syndrome associated with a balanced 6-9 translocation]
beta-Thalassemia
Genetic structure of the Greek gypsies.
Blindness
Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?
Bone Diseases, Metabolic
Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia.
Brain Diseases
Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight.
Breast Neoplasms
Alternative splicing of CYP2D mRNA in human breast tissue.
Chlormadinone acetate as a possible effective agent for congenital adrenal hyperplasia to suppress elevated ACTH and antagonize masculinization.
The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Carcinogenesis
A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
Metabolism of glucocorticoids and mineralocorticoids in patients with adrenal incidentalomas.
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
[Molecular biology of incidentally diagnosed adrenal gland space-occupying lesion]
Carcinoma
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
An 88-year-old woman diagnosed with adrenal tumor and congenital adrenal hyperplasia: connection or coincidence?
Chlormadinone acetate as a possible effective agent for congenital adrenal hyperplasia to suppress elevated ACTH and antagonize masculinization.
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
Steroid biosynthesis in human adrenal tumors.
[Image diagnosis of adrenal disorders. III. "Nonfunctioning" adrenal adenoma, weak mineralocorticoids producing adrenal carcinoma, congenital adrenogenital syndrome due to 21-hydroxylase deficiency--simple virilizing form, and pheochromocytoma]
Cardiovascular Diseases
Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Obesity in 21-hydroxylase deficient patients.
Catalepsy
Rat brain CYP2D enzymatic metabolism alters acute and chronic haloperidol side-effects by different mechanisms.
Celiac Disease
Autoantibody "subspecificity" in type 1 diabetes: risk for organ-specific autoimmunity clusters in distinct groups.
Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.
Chagas Disease
21-Hydroxylase gene mutant allele CYP21A2(?)15 strongly linked to the resistant HLA haplotype B(?)14:02-DRB1(?)01:02 in chronic Chagas disease.
CHARGE Syndrome
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Cholera
Expression of 11 beta-hydroxylase and 21-hydroxylase in long-term cultures of bovine adrenocortical cells requires extracellular matrix factors.
Interaction of phorbol ester and adrenocorticotropin in the regulation of steroidogenic P450 genes in human fetal and adult adrenal cell cultures.
The response of 21-hydroxylase messenger ribonucleic acid levels to adenosine 3',5'-monophosphate and 12-O-tetradecanoylphorbol-13-acetate in bovine adrenocortical cells is dependent on culture conditions.
Common Variable Immunodeficiency
Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes.
Confusion
Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency.
Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency.
Congenital Hypothyroidism
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.
Low Adrenomedullary Function Predicts Acute Illness in Infants with Classical Congenital Adrenal Hyperplasia.
[Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].
Cryptorchidism
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Cushing Syndrome
A practical approach to the diagnosis of polycystic ovary syndrome.
Classic congenital adrenal hyperplasia and puberty.
Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase.
Coexistence of 21-hydroxylase and 11 beta-hydroxylase deficiency in adrenal incidentalomas and in subclinical Cushing's syndrome.
Endocrinology Update: Hirsutism.
Excretion pattern of 3 beta-hydroxysteroids in patients with adrenal tumor, Cushing's disease and 21-hydroxylase deficiency, and in pregnancy, using thin-layer chromatography and color development of 3 beta-hydroxysteroids with 3 beta-hydroxysteroid oxidase.
Hormonal and metabolic evaluation of adrenal incidentalomas.
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
Prevalence of endocrine diseases and abnormal glucose tolerance tests in 340 Caucasian premenopausal women with hirsutism as the referral diagnosis.
Significance of steroidogenic enzymes in the pathogenesis of hyperfunctioning and non-hyperfunctioning adrenal tumor.
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
The constant plasma 18-hydroxycorticosterone to aldosterone ratio: an expression of the efficacy of corticosterone methyloxidase type II activity in disorders with variable aldosterone production.
[A method for the quantitative analysis of steroid hormones by HPLC/RIA]
[Adrenal myelolipoma]
Cystic Fibrosis
Genetic structure of the Greek gypsies.
Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
[Screening for hereditary diseases. What other screening?]
Cystinosis
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
Deafness
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Dehydration
Cold stress and congenital adrenal hyperplasia heterozygotes.
Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B.
[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996]
Dermatitis, Seborrheic
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Diabetes Mellitus
21-hydroxylase autoantibody-negative Addison's disease in a 5-year-old boy with adrenal crisis and type 1 diabetes mellitus.
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population.
First proof of association between autoimmune polyglandular syndrome and multiple endocrine neoplasia in humans.
Genetic determinants of 21-hydroxylase autoantibodies amongst patients of the type 1 diabetes genetics consortium.
Diabetes Mellitus, Type 1
21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
21-hydroxylase autoantibody-negative Addison's disease in a 5-year-old boy with adrenal crisis and type 1 diabetes mellitus.
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Autoantibodies against glutamic acid decarboxylase and 21-hydroxylase in Brazilian patients with type 1 diabetes or autoimmune thyroid diseases.
Complement genes of the major histocompatibility complex (complotypes), extended haplotypes and disease markers.
DRB1*04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease.
Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population.
GADA Titer-Related Risk for Organ-Specific Autoimmunity in LADA Subjects Subdivided according to Gender (NIRAD Study 6).
Genetic determinants of 21-hydroxylase autoantibodies amongst patients of the type 1 diabetes genetics consortium.
Homozygosity of the Polymorphism MICA5.1 Identifies Extreme Risk of Progression to Overt Adrenal Insufficiency among 21-Hydroxylase Antibody-Positive Patients with Type 1 Diabetes.
Steroid 21-hydroxylase autoantibodies in insulin-dependent diabetes mellitus. Childhood Diabetes in Finland (DiMe) Study Group.
Diabetes Mellitus, Type 2
Changes in CYP2D enzyme activity following induction of type 2 diabetes, and administration of cinnamon and metformin: an experimental animal study.
GADA Titer-Related Risk for Organ-Specific Autoimmunity in LADA Subjects Subdivided according to Gender (NIRAD Study 6).
Islet autoantibodies in Latvian subjects with non-insulin-dependent diabetes mellitus: slow-onset type 1 diabetes or polyendocrine autoimmunity?
Disorders of Sex Development
Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: consequence or coincidence?
Ambiguous genitalia due to partial activity of cytochromes P450c17 and P450c21.
An SNP-Based Linkage Map for Zebrafish Reveals Sex Determination Loci.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria.
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy.
Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy.
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study.
Different states of clinical control are associated with changes in IGF-I and IGFBPs in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
Disorders of sex development and female reproductive capacity: A literature review.
Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia.
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.
First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).
Genetic disorders of adrenal hormone synthesis.
Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades.
Historical milestones in endocrinology.
Hormonal therapies for individuals with intersex conditions: protocol for use.
Increased first-trimester nuchal translucency as a prenatal manifestation of salt-wasting congenital adrenal hyperplasia.
Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Outcome of congenital adrenal hyperplasia.
Practical management of the intersex infant.
Prenatal and early postnatal treatment of congenital adrenal hyperplasia.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
[Adrenal myelolipoma]
Dwarfism
[Bilateral testicular masses in the scope of adrenogenital syndrome]
Dyslipidemias
[Prevalence and related factors of dyslipidemia in patients with 21-hydroxylase deficiency].
Ehlers-Danlos Syndrome
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.
Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
Embryo Loss
Physiopathology of human embryonic implantation: clinical incidences.
Endocrine System Diseases
Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency.
Twin genes and endocrine disease: CYP21 and CYP11B genes.
[Congenital adrenal hyperplasia and growth hormone deficiency. Special care in transition to adulthood]
Endometrial Hyperplasia
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman.
Epilepsy
Messenger RNA of steroid 21-hydroxylase (CYP21) is expressed in the human hippocampus.
Erectile Dysfunction
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Essential Hypertension
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
exo-alpha-sialidase deficiency
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
Fabry Disease
Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
Fatty Liver
Effects of Orotic Acid-Induced Non-Alcoholic Fatty Liver on the Pharmacokinetics of Metoprolol and its Metabolites in Rats.
Felty Syndrome
Molecular characterisation of C4 null alleles found in Felty's syndrome.
Fetal Growth Retardation
Disorders of sex development and female reproductive capacity: A literature review.
Follicular Cyst
Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency.
Galactorrhea
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women.
Gastritis
Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.
Genetic Diseases, Inborn
"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia.
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
Adrenal steroidogenesis and congenital adrenal hyperplasia.
Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.
Difference in transcriptional activity of two homologous CYP21A genes.
Expression of human 21-hydroxylase (P450c21) in bacterial and mammalian cells: a system to characterize normal and mutant enzymes.
Extensive clinical experience: nonclassical 21-hydroxylase deficiency.
Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
High frequency of nonclassical steroid 21-hydroxylase deficiency.
Hyperandrogenism: new insights into diagnosis and therapy.
Interaction between accumulated 21-deoxysteroids and mineralocorticoid signaling in 21-hydroxylase deficiency.
Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia.
Structure and expression of the CYP21 (P450c21, steroid 21-hydroxylase) gene with respect to its deficiency.
Synthesis and application of circularizable ligation probes.
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
Treatment and health outcomes in adults with congenital adrenal hyperplasia.
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].
[Gene heterogeneity in adrenal 21-hydroxylase]
[Late (non-classic) adrenal hyperplasia]
[Newborn screening for congenital adrenal hyperplasia in France].
[Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening.]
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].
Germinoma
CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
Glomerulonephritis, IGA
Genetic study on HLA class II and class III region in the disease associated with IgA nephropathy.
Glucose Intolerance
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.
Gonadal Dysgenesis
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
Disorders of sex development and female reproductive capacity: A literature review.
Gonadal Dysgenesis, Mixed
Ambiguous genitalia--etiology, diagnosis, and therapy.
Disorders of sex development and female reproductive capacity: A literature review.
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
[Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]
Graves Disease
21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
Autoantibodies against glutamic acid decarboxylase and 21-hydroxylase in Brazilian patients with type 1 diabetes or autoimmune thyroid diseases.
[Newborn infants of mothers with endocrinopathies]
Gynecomastia
"Masked" 21-hydroxylase deficiency of the adrenal presenting with gynecomastia and bilateral testicular masses.
Androstenedione aromatization as a cause of gynecomastia in 11beta-hydroxylase and 21-hydroxylase deficiencies.
Non-classical 21-hydroxylase deficiency in boys with prepubertal or pubertal gynecomastia.
Hashimoto Disease
[Newborn infants of mothers with endocrinopathies]
Hearing Loss
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Heart Failure
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.
Hemoglobinopathies
Delayed diagnosis of infants with abnormal neonatal screens.
Hemophilia A
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
[Problems posed by the association of hemophilia A and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
Hepatitis, Autoimmune
Polymorphism in the human complement C4 genes and genetic susceptibility to autoimmune hepatitis.
Herpes Zoster
21-Hydroxylase, a major autoantigen in idiopathic Addison's disease.
A case of aldosterone-producing adenoma with severe postoperative hyperkalemia.
Adrenocortical-specific transgene expression directed by steroid hydroxylase gene promoters.
Effects of age and adrenocorticotropin on microsomal enzymes in guinea pig adrenal inner and outer cortices.
Effects of continued adrenocorticotropin stimulation on the mineralocorticoid hormones in classical and nonclassical simple virilizing types of 21-hydroxylase deficiency.
Glucocorticoids and aging.
In vitro conversion of cholesterol into aldosterone and cortisol in different zones of the bovine adrenal cortex.
Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?
Light and electron microscopic immunohistochemistry of the localization of adrenal steroidogenic enzymes.
Metabolism of glucocorticoids and mineralocorticoids in patients with adrenal incidentalomas.
Mineralocorticoids in congenital adrenal hyperplasia.
New aspects on primary aldosteronism.
Protein kinase A, protein kinase C, and Ca(2+)-regulated expression of 21-hydroxylase cytochrome P450 in H295R human adrenocortical cells.
Radioimmunoassay of urinary 21-deoxytetrahydroaldosterone in primary aldosteronism and 21-hydroxylase deficiency.
Strain differences in adrenal microsomal steroid metabolism in guinea pigs.
Studies of adrenal steroidogenic enzymes in guinea pigs.
Testosterone-secreting virilizing adrenal adenoma with human chorionic gonadotrophin receptors and 21-hydroxylase deficiency.
The 21-hydroxylase activity in the glomerulosa and fasciculata of the adrenal cortex in congenital adrenal hyperplasia.
Transcriptional activation of adrenocortical steroidogenic genes by high potassium or low sodium intake.
Unique cases of unilateral hyperaldosteronemia due to multiple adrenocortical micronodules, which can only be detected by selective adrenal venous sampling.
Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and nonclassic patients and heterozygote carriers.
Hirsutism
11 beta-hydroxylase deficiency in hyperandrogenism.
A case of patient affected by hirsutism carrying the P482S CYP21 gene mutation associated with loss of heterozygosity (LOH).
A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia.
A woman with too much facial hair. Evaluating the possibility of attenuated 21-hydroxylase deficiency in hirsutism.
ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism.
Androstanediolglucuronide: a parameter for peripheral androgen activity before and during therapy with cyproterone acetate.
Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency.
Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency.
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Congenital adrenal hyperplasia.
Cyproterone acetate-ethinyl estradiol treatment alters urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women.
Development of plasma 21-deoxycortisol radioimmunoassay and application to the diagnosis of patients with 21-hydroxylase deficiency.
Endocrinology Update: Hirsutism.
High prevalence of polycystic ovary syndrome in women with mild hirsutism and no other significant clinical symptoms.
High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.
Hormonal status and clinical relevance of hirsutism in elderly women.
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Investigative strategy of hyperandrogenism in women.
Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?
Late onset adrenal hyperplasia due to 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency in north Indian hirsute women.
Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne.
Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.
Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women.
Late-onset congenital adrenal hyperplasia in women with hirsutism.
Non polycystic ovary syndrome-related endocrine disorders associated with hirsutism.
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Partial 11- and 21-hydroylase deficiencies in hirsute women.
Prevalence of late-onset adrenal hyperplasia in postmenarchal hirsutism.
Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.
Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.
Results of the ACTH stimulation test in hirsute women.
Serum cortisol in adrenal hirsutism as estimated by five different methods.
Steroid hormones in the adrenal venous effluents in idiopathic hirsutism under basal and stimulated conditions.
Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism.
The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency).
The Frequency of CYP 21 Gene Mutations in Turkish Women with Hyperandrogenism.
The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women.
The incidence of non-classical 21-hydroxylase deficiency in hirsute adolescent girls.
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.
The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both.
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in Turkish woman with hirsutism and polycystic ovary.
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women: the effect of cyproterone acetate-ethinyl estradiol treatment.
Urinary pregnanetriol excretion in hirsutism.
[21-Hydroxylase deficiency. Clinical expression of heterozygote carriers in a family]
[3 beta-hydroxysteroid dehydrogenase deficiency and 21-hydroxylase deficiency in hirsutism]
[Adrenal myelolipoma]
[Evaluation of salivary 17-hydroxyprogesterone and its clinical usefulness in the study of hirsutism and the partial deficiency of 21-hydroxylase]
[Hirsutism in Chilean women: importance of 21-hydroxylase congenital deficiency of late onset]
[Hirsutism secondary to congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency of late onset. A clinical case]
[Hirsutism. Two familial cases of 21-hydroxylase deficiency]
[Hyperandrogenism in premenopausal women]
[Partial deficiency in 21-hydroxylase in certain forms of hirsutism]
[Partial deficiency of 21-hydroxylase: a cause of hirsutism]
[Research on hirsutism. Apropos of a case of partial 21-hydroxylase deficiency]
Hyperaldosteronism
21-Deoxyaldosterone excretion in patients with primary aldosteronism and 21-hydroxylase deficiency.
Expression of cytochrome P-450 mRNAs in steroidogenesis of adrenocortical adenomas from patients with primary aldosteronism.
Hormonal and metabolic evaluation of adrenal incidentalomas.
Radioimmunoassay of three deoxycorticoids in human plasma following HPLC separation.
Radioimmunoassay of urinary 21-deoxytetrahydroaldosterone in primary aldosteronism and 21-hydroxylase deficiency.
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
[Adrenal myelolipoma]
[Newborn infants of mothers with endocrinopathies]
Hyperandrogenism
21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis.
A Diagnosis Not to Be Missed: Nonclassic Steroid 11?-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism.
A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain.
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency.
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
Classic congenital adrenal hyperplasia and puberty.
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Congenital adrenal hyperplasia.
Detection and management of late-onset 21-hydroxylase deficiency in women with hyperandrogenism.
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia.
Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.
Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.
Hyperandrogenism: new insights into etiology, diagnosis, and therapy.
Impaired gonadal function in a woman with multiple symmetric lipomatosis.
Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency.
Investigative strategy of hyperandrogenism in women.
Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne.
Late onset adrenocortical hydroxylase deficiencies associated with menstrual dysfunction.
Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia.
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Metabolic syndrome manifestations in classic congenital adrenal hyperplasia: do they predispose to atherosclerotic cardiovascular disease and secondary polycystic ovary syndrome?
Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism.
Novel mutations in CYP21 detected in individuals with hyperandrogenism.
Ovarian and adrenal hyperandrogenism.
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers.
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment.
Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism.
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.
The Frequency of CYP 21 Gene Mutations in Turkish Women with Hyperandrogenism.
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.
The risk of functional ovarian hyperandrogenism and polycystic ovary syndrome in patients with hyperandrogenism.
The role of heterozygosity for CYP21 in the polycystic ovary syndrome.
Treatment with flutamide decreases cortisol clearance: implications for therapy in congenital adrenal hyperplasia.
Use of PET/CT with Cosyntropin Stimulation to Identify and Localize Adrenal Rest Tissue following Adrenalectomy in a Woman with Congenital Adrenal Hyperplasia.
Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
[Acne and hormones]
[Diagnostic strategy in infertility due to hyperandrogenism. Development of a decision tree]
[Hyperandrogenism in premenopausal women]
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings]
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
[Unique steroid 21-hydroxylase gene CYP21A2 polymorphism in patients with hyperandrogenism signs].
Hyperhomocysteinemia
Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.
Hyperinsulinism
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Insulin resistance in congenital adrenal hyperplasia is compensated for by reduced insulin clearance.
Ovarian and adrenal hyperandrogenism.
Hyperkalemia
[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)]
[Neonatal screening for congenital adrenal hyperplasia in Shanghai areas]
Hyperparathyroidism
[Newborn infants of mothers with endocrinopathies]
Hyperprolactinemia
A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain.
Endocrinology Update: Hirsutism.
Implications of ultrasonically diagnosed polycystic ovaries. I. Correlations with basal hormonal profiles.
The prevalence of hyperandrogenism in 109 consecutive female patients with diffuse alopecia.
[Newborn infants of mothers with endocrinopathies]
Hypersensitivity
Pharmacokinetics and Differential Regulation of Cytochrome P450 Enzymes in Type 1 Allergic Mice.
Hypertension
A Greek girl with 11?-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
Early hypertension and prolonged mineralocorticoid therapy discontinuation in a child with salt-wasting 21-hydroxylase deficiency.
Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.
Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy.
Obesity in 21-hydroxylase deficient patients.
Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report.
Structure-Based Design of Inhibitors with Improved Selectivity for Steroidogenic Cytochrome P450 17A1 over Cytochrome P450 21A2.
Hypertension, Renal
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
Hyperthyroidism
Development of Graves' hyperthyroidism caused an adrenal crisis in a patient with previously unrecognized non-classical 21-hydroxylase deficiency.
Endocrinology Update: Hirsutism.
Hypertrichosis
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hypoadrenocorticism, Familial
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Effects of fetal androgen on childhood behavior.
Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita.
Hypoaldosteronism
Linkage and segregation analysis of HLA and congenital hypoaldosteronism due to corticosterone methyl-oxydase deficiency type I and type II.
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)]
Hypoglycemia
Cortisol and aldosterone responses to hypoglycemia and Na depletion in women with non-classic 21-hydroxylase deficiency.
Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
Hypokalemia
Structure-Based Design of Inhibitors with Improved Selectivity for Steroidogenic Cytochrome P450 17A1 over Cytochrome P450 21A2.
Hypokalemic Periodic Paralysis
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Hyponatremia
Addison Disease: The First Presentation of the Condition May be at Autopsy.
Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia.
Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency.
[Aggravation of salt loss due to hydrocortisone in the first days of treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Neonatal screening for congenital adrenal hyperplasia in Shanghai areas]
Hypopituitarism
Salt-losing form of 21-hydroxylase deficiency accompanied by hypopituitarism in a boy.
Hypospadias
Ambiguous genitalia: what prenatal genetic testing is practical?
Hypospadias in a male patient with 21-hydroxylase deficiency.
Hypotension, Orthostatic
Addison Disease: The First Presentation of the Condition May be at Autopsy.
Hypothyroidism
Implications of ultrasonically diagnosed polycystic ovaries. I. Correlations with basal hormonal profiles.
[Newborn infants of mothers with endocrinopathies]
IgA Deficiency
Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes.
The coexistence of IgA deficiency and 21-hydroxylase deficiency marked by specific MHC supratypes.
Infections
A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.
Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia.
Repression of Hepatic Cytochrome P450 2D Expression in Mice during Babesia microti Infection.
Infertility
A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation.
Basal and adrenocorticotropic hormone-stimulated serum 17 alpha-hydroxyprogesterone in men with idiopathic infertility.
Congenital adrenal hyperplasia and pregnancy.
Congenital adrenal hyperplasia.
Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.
Fertility and pregnancy outcome in a woman with classic congenital adrenal hyperplasia.
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
Infertility caused by bilateral testicular masses secondary to congenital adrenal hyperplasia (21-hydroxylase deficiency).
Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia.
Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Premature ovarian failure associated with autoimmune polyglandular syndrome: pathophysiological mechanisms and future fertility.
Primary infertility in 45-year-old man with untreated 21-hydroxylase deficiency: successful outcome with glucocorticoid therapy.
Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia.
Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.
Reversible male infertility due to congenital adrenal hyperplasia.
Serum total testosterone levels in a patient with late onset 21-hydroxylase deficiency and a twin gestation.
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Infertility, Female
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
Infertility, Male
21-hydroxylase deficiency associated with male infertility: report of 2 cases with gene analyses.
Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.
Home monitoring of 17 alpha-hydroxyprogesterone levels by filter paper blood spots in patients with 21-hydroxylase deficiency.
Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.
Reversible male infertility in late onset congenital adrenal hyperplasia.
Insulin Resistance
Associations between pituitary-adrenocortical function and abdominal obesity, hyperinsulinaemia and dyslipidaemia in normotensive males.
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.
Hyperinsulinaemia, dyslipidaemia and exaggerated adrenal androgen response to adrenocorticotropin in male smokers.
Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency.
Metabolic evaluation of young women with congenital adrenal hyperplasia.
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Persistent insulin resistance after normalization of androgen levels in a woman with congenital adrenal hyperplasia. A case report.
Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.
Prevalence of 21-hydroxylase-deficient nonclassic adrenal hyperplasia and insulin resistance among hirsute women from Puerto Rico.
Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty?
Insulinoma
Organ-specific autoimmunity in relation to clinical characteristics in children with long-lasting type 1 diabetes.
Intellectual Disability
[Microsporum canis mycetoma of the scalp]
Keratoconus
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus.
Klinefelter Syndrome
21-hydroxylase deficiency and klinefelter syndrome in an adult man: striking a balance between androgen excess and insufficiency.
Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?
Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.
Leiomyoma
Suicide inactivation of aromatase in human placenta and uterine leiomyoma by 5 alpha-dihydronorethindrone, a metabolite of norethindrone, and its effect on steroid-producing enzymes.
Leukodystrophy, Globoid Cell
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Lewy Body Disease
Alternative splicing patterns of CYP2D genes in human brain and neurodegenerative disorders.
Leydig Cell Tumor
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
Extraadrenal expression of steroid 21-hydroxylase and 11 beta-hydroxylase by a benign testicular Leydig cell tumor.
Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase deficiency.
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Steroid 21-hydroxylase in normal testes and malignant interstitial cell tumors.
Liver Diseases
Effects of Orotic Acid-Induced Non-Alcoholic Fatty Liver on the Pharmacokinetics of Metoprolol and its Metabolites in Rats.
Lung Neoplasms
Cytochrome P450 CYP2D6 gene polymorphism and lung cancer susceptibility in Caucasians.
Lupus Erythematosus, Systemic
Molecular heterogeneity of complement component C4-null and 21-hydroxylase genes in systemic lupus erythematosus.
Luteoma
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome.
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.
Lymphoma
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Mastitis
[Study on relationships between seven microsatellite loci and somatic cell score in Beijing Holstein cows]
Meningioma
Meningioma in congenital adrenal hyperplasia.
Meningomyelocele
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Metabolic Diseases
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21.
[Adrenogenital syndrome. I. Introduction, enzymology and heredity]
Metabolic Syndrome
A Favorable Metabolic and Antiatherogenic Profile in Carriers of CYP21A2 Gene Mutations Supports the Theory of a Survival Advantage in This Population.
Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Metabolism, Inborn Errors
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
Rapid screening method for detecting mutations in the 21-hydroxylase gene.
Mucocutaneous Lymph Node Syndrome
Kawasaki syndrome and 21-hydroxylase deficiency.
Mucolipidoses
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
Multiple Carboxylase Deficiency
Fetal drug therapy.
Muscular Atrophy, Spinal
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Muscular Dystrophies
Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
Muscular Dystrophy, Duchenne
[Screening for hereditary diseases. What other screening?]
Myelolipoma
11C-Metomidate PET/CT Detected Multiple Ectopic Adrenal Rest Tumors in a Woman With Congenital Adrenal Hyperplasia.
Adrenal myelolipoma associated with congenital adrenal 21-hydroxylase deficiency.
Adrenal myelolipoma associated with endocrine dysfunction: review of the literature.
Adrenal Myelolipomas in Patients with Congenital Adrenal Hyperplasia: Review of the Literature and a Case Report.
Bilateral adrenal myelolipoma associated with adrenogenital syndrome.
Bilateral adrenal myelolipomas associated With 21-hydroxylase deficiency.
Development of multiple adrenal myelolipomas after trauma-induced adrenal haemorrhage.
Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase deficiency.
Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma.
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia.
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Lack of ACTH and androgen receptor expression in a giant adrenal myelolipoma associated with 21-hydroxylase deficiency.
Myelolipoma and endocrine dysfunction.
PREVALENCE AND CHARACTERISTICS OF ADRENAL TUMORS AND MYELOLIPOMAS IN CONGENITAL ADRENAL HYPERPLASIA: A SYSTEMATIC REVIEW AND META-ANALYSIS.
Prevalence and Characteristics of Adrenal Tumors and Myelolipomas in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis.
Two adults with adrenal myelolipoma and 21-hydroxylase deficiency.
[A case of adrenal myelolipoma associated with adrenogenital syndrome]
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
[Adrenal myelolipoma]
[Giant bilateral adrenal myelolipoma associated with congenital adrenal hyperplasia.]
nadph-hemoprotein reductase deficiency
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
Prenatal diagnosis of congenital adrenal hyperplasia caused by p450 oxidoreductase deficiency.
Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11?-Hydroxyandrosterone.
Nasopharyngeal Carcinoma
C4 and 21-hydroxylase gene deletions in nasopharyngeal carcinoma among the Chinese.
Neoplasm Metastasis
Cross-talk between T cells and osteoclasts in bone resorption.
Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium.
Neoplasms
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency.
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
A case of aldosterone-producing adenoma with severe postoperative hyperkalemia.
A Diagnosis Not to Be Missed: Nonclassic Steroid 11?-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism.
A fission yeast-based test system for the determination of IC50 values of anti-prostate tumor drugs acting on CYP21.
A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
A novel cAMP-dependent regulatory region including a sequence like the cAMP-responsive element, far upstream of the human CYP21A2 gene.
A novel function of CYP21A2 in regulating cell migration and invasion via Wnt signaling.
A practical approach to the diagnosis of polycystic ovary syndrome.
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.
Abundance of DLK1, differential expression of CYP11B1, CYP21A2 and MC2R, and lack of INSL3 distinguish testicular adrenal rest tumours from Leydig cell tumours.
Addison Disease: The First Presentation of the Condition May be at Autopsy.
Adrenal lymphocytic infiltration and adrenocortical tumors in a patient with 21-hydroxylase deficiency.
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.
Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy.
Adrenal tumour associated with silent 21-hydroxylase deficiency in a male or with a classic form of 21-hydroxylase defect in a female?
Adrenal tumour associated with silent 21-hydroxylase deficiency in a male.
Adrenocortical tumor in a patient with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenocortical tumor in a patient with untreated congenital adrenocortical hyperplasia owing to 21-hydroxylase deficiency: characterization of steroidogenic lesions.
Adrenocortical tumour in untreated congenital adrenocortical hyperplasia associated with inadequate ACTH suppressibility.
Alternative splicing of CYP2D mRNA in human breast tissue.
Androgen suppressive effect of GnRH agonist in ovarian hyperthecosis and virilizing tumours.
Augmented 17 alpha-hydroxyprogesterone response to ACTH stimulation as evidence of decreased 21-hydroxylase activity in patients with incidentally discovered adrenal tumours ('incidentalomas').
Bilateral aldosteronoma associated with secondary aldosteronism in a chronic hemodialysis subject.
Characterization of a regulatory region of the steroid 21-hydroxylase gene.
cis modification of the steroid 21-hydroxylase gene prevents its expression in the Y1 mouse adrenocortical tumor cell line.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
Comparisons of CYP2D messenger RNA splice variant profiles in human lung tumors and normal tissues.
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency.
Conservation of the central MHC genome: PFGE mapping and RFLP analysis of complement, HSP70, and TNF genes in the goat.
CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2.
Development of multiple adrenal myelolipomas after trauma-induced adrenal haemorrhage.
Dexamethasone-suppressible adrenal tumour in untreated 21-hydroxylase deficiency.
Double adenomas with different pathological and hormonal features in the left adrenal gland of a patient with Cushing's syndrome.
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
Endocrinology Update: Hirsutism.
Excretion pattern of 3 beta-hydroxysteroids in patients with adrenal tumor, Cushing's disease and 21-hydroxylase deficiency, and in pregnancy, using thin-layer chromatography and color development of 3 beta-hydroxysteroids with 3 beta-hydroxysteroid oxidase.
Expression of murine 21-hydroxylase in mouse adrenal glands and in transfected Y1 adrenocortical tumor cells.
Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3?-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Extraadrenal expression of steroid 21-hydroxylase and 11 beta-hydroxylase by a benign testicular Leydig cell tumor.
Favourable response of a virilizing adrenocortical carcinoma to preoperative treatment with ketoconazole and postoperative chemotherapy.
Formation of a novel topotecan metabolite in the hormone-independent human prostate carcinoma cell lines DU-145 and PC-3.
Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase deficiency.
Gonadectomy-related adrenocortical tumors in ferrets demonstrate increased expression of androgen and estrogen synthesizing enzymes together with high inhibin expression.
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia.
Homologies between the major histocompatibility complex of man and cattle: consequences for disease resistance and susceptibility.
Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
Identification of promoter elements in the mouse 21-hydroxylase (Cyp21) gene that require a functional cyclic adenosine 3',5'-monophosphate-dependent protein kinase.
Impairment of 11 beta-hydroxylase but not 21-hydroxylase in adrenal 'incidentalomas'.
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
In vitro secretion of deoxycorticosterone by a benign Leydig cell tumor of the testis.
Increased prevalence of heterozygous 21-OH germline mutations in patients with adrenal incidentalomas.
Infertility and bilateral adrenal tumors.
Isolated transient neonatal clitoromegaly with hyperandrogenism of unknown etiology.
Isosexual precocious pseudopuberty secondary to a feminizing adrenal tumor.
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes.
Localization of an ovarian cancer tumor suppressor gene to a 0.5-cM region between D22S284 and CYP2D, on chromosome 22q.
Malignant Adrenal Rest Tumor of the Retroperitoneum Producing Adrenocortical Steroids.
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Meningioma in congenital adrenal hyperplasia.
Molecular characterization of a Leydig cell tumor presenting as congenital adrenal hyperplasia.
Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis.
Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene.
No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours.
Nucleotide-sequence-specific de novo methylation in a somatic murine cell line.
Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.
Ovarian steroid cell tumor, not otherwise specified, associated with congenital adrenal hyperplasia: rare tumors of an endocrine disease.
Pigmented adrenal hyperplasia with myelolipomatous changes and bilateral testicular enlargement in an untreated man with 21-hydroxylase deficiency.
Polymorphism of human CYP2D genes involved in drug metabolism: possible relationship to individual cancer risk.
Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas.
Prevalence of endocrine diseases and abnormal glucose tolerance tests in 340 Caucasian premenopausal women with hirsutism as the referral diagnosis.
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Production of 11-oxygenated androgens by testicular adrenal rest tumors.
Refinement of an ovarian cancer tumour suppressor gene locus on chromosome arm 22q and mutation analysis of CYP2D6, SREBP2 and NAGA.
Review: fetal programming of polycystic ovary syndrome by androgen excess: evidence from experimental, clinical, and genetic association studies.
Severe virilization in a girl with a steroid cell tumor of the ovary.
Sexual well-being in adult male patients with congenital adrenal hyperplasia.
Significance of steroidogenic enzymes in the pathogenesis of hyperfunctioning and non-hyperfunctioning adrenal tumor.
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Steroid 21-hydroxylase in normal testes and malignant interstitial cell tumors.
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
Steroid biosynthesis in human adrenal tumors.
Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism.
Testicular Adrenal Rest Tumor In Brothers With Novel Mutation In 3-Beta Hydroxysteroid Dehydrogenase -2 Gene.
Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.
Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up.
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
Testicular enlargement in patients with 11-hydroxylase deficiency.
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
The suppression effect of DNA sequences within the C4A region on the transcription activity of human CYP21.
Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
[21-hydroxylase deficiency associated with adrenal tumor: case report of two brothers]
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
[Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
[Clinical characteristics of testicular adrenal rest tumor and factors associated with its occurrence in 21-hydroxylase deficiency patients].
[Congenital adrenogenital syndrome and virilizing adrenocortical tumor in prepuberal females. Problems of diagnosis and therapy in 2 cases of virilization]
[Diagnosis and management of amenorrhea in adolescent girls].
[Newborn infants of mothers with endocrinopathies]
[Treatment of male adrenogenital syndrome (report of 17 cases)]
Nephritis
Genetic study on HLA class II and class III region in the disease associated with IgA nephropathy.
Neuroblastoma
Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency.
Neurodegenerative Diseases
Alternative splicing patterns of CYP2D genes in human brain and neurodegenerative disorders.
Non-alcoholic Fatty Liver Disease
Effects of Orotic Acid-Induced Non-Alcoholic Fatty Liver on the Pharmacokinetics of Metoprolol and its Metabolites in Rats.
Obesity
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency?
Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Inter- and intrafamilial variability in premature pubarche and polycystic ovary syndrome.
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Obesity and Cardiometabolic Risk Factors in Children and Young Adults With Non-classical 21-Hydroxylase Deficiency.
Obesity in 21-hydroxylase deficient patients.
Peer group normalization and urine to blood context in steroid metabolomics: the case of CAH and obesity.
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine.
[Hyperandrogenism in premenopausal women]
Obesity, Abdominal
Associations between pituitary-adrenocortical function and abdominal obesity, hyperinsulinaemia and dyslipidaemia in normotensive males.
Pituitary-adrenocortical function in abdominal obesity of males: evidence for decreased 21-hydroxylase activity.
Obesity, Morbid
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine.
Oligospermia
21-Deoxycortisol (21-DF) and 17-hydroxyprogesterone (17-OHP) responses to adrenalcorticotropic hormone in males with idiopathic oligozoospermia.
Basal and adrenocorticotropic hormone-stimulated serum 17 alpha-hydroxyprogesterone in men with idiopathic infertility.
Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia.
Osteogenesis Imperfecta
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Osteolysis
Cross-talk between T cells and osteoclasts in bone resorption.
Osteoporosis
Cross-talk between T cells and osteoclasts in bone resorption.
Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia.
Glucocorticoid-induced osteoporosis in children with 21-hydroxylase deficiency.
High dickkopf-1 levels in sera and leukocytes from children with 21-hydroxylase deficiency on chronic glucocorticoid treatment.
OSTEOCLASTOGENESIS IN CHILDREN WITH 21-HYDROXYLASE DEFICIENCY ON LONG TERM GLUCOCORTICOID THERAPY: THE ROLE OF RANKL/OPG IMBALANCE.
Ovarian Cysts
A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect.
Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency.
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
Ovarian Diseases
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease.
Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.
Polycystic ovarian disease and congenital and late-onset adrenal hyperplasia.
Ovarian Neoplasms
Localization of an ovarian cancer tumor suppressor gene to a 0.5-cM region between D22S284 and CYP2D, on chromosome 22q.
Overweight
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.
Excess weight and precocious pubarche in children: alterations of the adrenocortical hormones.
Ovotesticular Disorders of Sex Development
Ambiguous genitalia--etiology, diagnosis, and therapy.
Paralysis
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Parkinson Disease
Expression and localisation of CYP2D enzymes in rat basal ganglia.
peptidyl-glutamate 4-carboxylase deficiency
Fetal drug therapy.
Perinatal Death
Screening for neonatal endocrinopathies: rationale, methods and results.
Pheochromocytoma
Hormonal and metabolic evaluation of adrenal incidentalomas.
Steroid enzyme activities in extraadrenal pheochromocytomas.
[Image diagnosis of adrenal disorders. III. "Nonfunctioning" adrenal adenoma, weak mineralocorticoids producing adrenal carcinoma, congenital adrenogenital syndrome due to 21-hydroxylase deficiency--simple virilizing form, and pheochromocytoma]
[Newborn infants of mothers with endocrinopathies]
Pigmentation Disorders
[Short-term administration of dexamethasone in salt-losing 21-hydroxylase deficiency who showed sudden growth and pigmentation disorder under routine cortisol therapy]
Pituitary ACTH Hypersecretion
Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase.
Combined adrenal myelolipoma and adenoma associated with Cushing's syndrome.
Cushing's disease in a patient with steroid 21-hydroxylase deficiency.
Excretion pattern of 3 beta-hydroxysteroids in patients with adrenal tumor, Cushing's disease and 21-hydroxylase deficiency, and in pregnancy, using thin-layer chromatography and color development of 3 beta-hydroxysteroids with 3 beta-hydroxysteroid oxidase.
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
Nyctohemeral variation and suppressibility of plasma ACTH in various stages of Cushing's disease.
Steroid 21-hydroxylase and 17 alpha-hydroxylase in microsomal fraction of functioning adrenocortical tumors.
Pituitary Neoplasms
An acth-secreting pituitary tumour arising in a patient with congenital adrenal hyperplasia.
The prevalence of hyperandrogenism in 109 consecutive female patients with diffuse alopecia.
Polycystic Ovary Syndrome
5 alpha-reductase activity in polycystic ovary syndrome.
Analysis of 52 C19 and C21 steroids by UPC2-MS/MS: Characterising the C11-oxy steroid metabolome in serum.
Androstanediolglucuronide: a parameter for peripheral androgen activity before and during therapy with cyproterone acetate.
Clinical significance of 11-oxygenated androgens.
Cognitive Outcome in Adult Women Affected by Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS).
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
Endocrinology Update: Hirsutism.
Exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation and evidence for CYP21B gene point mutations in true precocious puberty.
Lack of association between CYP21 V281L variant and polycystic ovary syndrome in Italian women.
Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian Syndrome.
Nonclassic congenital adrenal hyperplasia and the heterozygote carrier.
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Ovarian and adrenal hyperandrogenism.
Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.
Premature Adrenarche and its Association with Cardiovascular Risk in Females.
Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess.
Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.
Radioimmunoassay of three deoxycorticoids in human plasma following HPLC separation.
Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism.
The 11?-hydroxysteroid dehydrogenase isoforms: pivotal catalytic activities yield potent C11-oxy C19 steroids with 11?HSD2 favouring 11-ketotestosterone, 11-ketoandrostenedione and 11-ketoprogesterone biosynthesis.
The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome.
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
The role of heterozygosity for CYP21 in the polycystic ovary syndrome.
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women.
Urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women: the effect of cyproterone acetate-ethinyl estradiol treatment.
[Partial deficiency in 21-hydroxylase in certain forms of hirsutism]
Polycythemia
Polycythemia in a patient with 21-hydroxylase deficiency.
[Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis.]
Polyendocrinopathies, Autoimmune
Autoimmune regulator induced changes in the gene expression profile of human monocyte-dendritic cell-lineage.
Immunoprecipitation of steroidogenic enzyme autoantigens with autoimmune polyglandular syndrome type I (APS I) sera; further evidence for independent humoral immunity to P450c17 and P450c21.
Mapping of B cell epitopes on steroid 17 alpha-hydroxylase, an autoantigen in autoimmune polyglandular syndrome type I.
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED.
Prader-Willi Syndrome
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Pre-Eclampsia
Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.
Physiopathology of human embryonic implantation: clinical incidences.
Primary Ovarian Insufficiency
Autoantibody responses in autoimmune ovarian insufficiency and in Addison's disease are IgG1 dominated and suggest a predominant, but not exclusive, Th1 type of response.
Prolactinoma
Prevalence of endocrine diseases and abnormal glucose tolerance tests in 340 Caucasian premenopausal women with hirsutism as the referral diagnosis.
Prostatic Neoplasms
Abiraterone acetate treatment lowers 11-oxygenated androgens.
Analysis of 52 C19 and C21 steroids by UPC2-MS/MS: Characterising the C11-oxy steroid metabolome in serum.
The 11?-hydroxysteroid dehydrogenase isoforms: pivotal catalytic activities yield potent C11-oxy C19 steroids with 11?HSD2 favouring 11-ketotestosterone, 11-ketoandrostenedione and 11-ketoprogesterone biosynthesis.
Pseudohypoaldosteronism
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.
Epidemiologic study of adrenal gland disorders in Japan.
Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B.
Puberty, Precocious
A 46XX disorder of sex development with a prostate gland and increased level of prostate-specific antigen.
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization.
A Greek girl with 11?-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.
Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls.
Benign testicular tumors in children with congenital adrenal hyperplasia.
CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.
Exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation and evidence for CYP21B gene point mutations in true precocious puberty.
Identification and Characterization of lncRNA and mRNA in Testes of Landrace and Hezuo Boars.
Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?
Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche.
Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life.
Transient central precocious puberty in non-classic 21-hydroxylase deficiency.
Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.
[Gas chromatography-mass spectrometry determination of plasma 5 alpha-androstane-3 alpha,17 beta-diol and 5 alpha-androstane-3 alpha,17 beta-diol glucuronide in children with premature and normal puberty ]
Purpura
Genetic study on HLA class II and class III region in the disease associated with IgA nephropathy.
Pyloric Stenosis
Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers.
Quadricuspid Aortic Valve
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
Renal Insufficiency
[21-hydroxylase deficit revealed by hyperkalemia in the absence of renal failure in an insulin-dependent diabetic (author's transl)]
Sex Chromosome Aberrations
Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?
Sex Chromosome Disorders of Sex Development
Etiological classification and clinical assessment of children and adolescents with disorders of sex development.
Sjogren's Syndrome
Adrenal autoimmunity in primary Sjogren's syndrome.
Starvation
[Effect of starvation and acetone on the enzyme systems of biotransformation and toxicity of xenobiotics--CYP2E1 substrates in rats]
steroid 11beta-monooxygenase deficiency
11 beta-hydroxylase deficiency: management of a difficult case by laparoscopic bilateral adrenalectomy.
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
3 alpha-androstanediol glucuronide in virilizing congenital adrenal hyperplasia: a useful serum metabolic marker of integrated adrenal androgen secretion.
A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region.
A prospective study of the prevalence of nonclassical congenital adrenal hyperplasia among women presenting with hyperandrogenic symptoms and signs.
ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism.
Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.
Adrenal steroidogenic function in a black and Hispanic population with precocious pubarche.
Apparent double defect in C11 beta and C21-steroid hydroxylation in congenital adrenal hyperplasia.
Benign testicular tumors in children with congenital adrenal hyperplasia.
Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia.
Coexistence of 21-hydroxylase and 11 beta-hydroxylase deficiency in adrenal incidentalomas and in subclinical Cushing's syndrome.
Combined 21- and 11 beta-hydroxylase deficiency in familial congenital adrenal hyperplasia.
Combined 21-hydroxylase and 11beta-hydroxylase deficiency: patient report and molecular basis.
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency: final diagnosis in adult age in three patients.
Congenital adrenal hyperplasia due to combined 21- and 11 beta-hydroxylase deficiency.
Congenital adrenal hyperplasia in pregnancy.
Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis.
Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
Congenital adrenal hyperplasia.
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
Distinctive plasma aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone profile in the 21-, 17 alpha-, and 11 beta-hydroxylase deficiency types of congenital adrenal hyperplasia.
Effects of fetal androgen on childhood behavior.
Evaluation of Adrenomedullary Function in Patients with Congenital Adrenal Hyperplasia.
Glucocorticoid receptors in patients with congenital adrenal hyperplasia.
Late-onset congenital adrenal hyperplasia in women with hirsutism.
Metabolism of glucocorticoids and mineralocorticoids in patients with adrenal incidentalomas.
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
Molecular genetics of congenital adrenal hyperplasia.
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: application in congenital adrenal hyperplasia.
Salivary and plasma androstenedione and 17-hydroxyprogesterone levels in congenital adrenal hyperplasia.
Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia.
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.
Sonographic findings in infants with congenital adrenal hyperplasia.
Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.
Testicular adrenal rest tumours in young adult males with congenital adrenal hyperplasia: prevalence and impact on testicular function.
Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: detection by ultrasonography.
Testicular adrenal-like tissue in a patient with 17 alpha-hydroxylase deficiency.
The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome.
The steroid response to controlled adrenal stimulation in congenital adrenal hyperplasia.
[Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency]
[Partial 3-beta-hydroxysteroid dehydrogenase deficiencies]
[Rare forms of female pseudohermaphroditism: when to investigate?]
[Treatment of male adrenogenital syndrome (report of 17 cases)]
steroid 17alpha-monooxygenase deficiency
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
steroid 21-monooxygenase deficiency
-
"Acquired" adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia.
"Masked" 21-hydroxylase deficiency of the adrenal presenting with gynecomastia and bilateral testicular masses.
'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population.
'Exaggerated adrenarche' in children presenting with premature adrenarche.
11 beta-hydroxylase deficiency: management of a difficult case by laparoscopic bilateral adrenalectomy.
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
11-Oxygenated Androgens Useful in the Setting of Discrepant Conventional Biomarkers in 21-Hydroxylase Deficiency.
11C-Metomidate PET/CT Detected Multiple Ectopic Adrenal Rest Tumors in a Woman With Congenital Adrenal Hyperplasia.
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency.
15 beta-hydroxylated steroids may be diagnostically misleading in confirming congenital adrenal hyperplasia suspected by a newborn screening programme.
17-Hydroxyprogesterone in the cosyntropin test: results in normal and hirsute women and in mild congenital adrenal hyperplasia.
17-Hydroxyprogesterone response to ACTH in bilateral and monolateral adrenal incidentalomas.
17-Hydroxyprogesterone responses to adrenocorticotropin in children with premature adrenarche.
17-hydroxyprogesterone, androstenedione, and testosterone in normal children and in prepubertal patients with congenital adrenal hyperplasia.
17OH-progesterone response to acute dexamethasone administration in congenital adrenal hyperplasia.
21-Deoxyaldosterone excretion in patients with primary aldosteronism and 21-hydroxylase deficiency.
21-Deoxycortisol (21-DF) and 17-hydroxyprogesterone (17-OHP) responses to adrenalcorticotropic hormone in males with idiopathic oligozoospermia.
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
21-hydroxylase deficiency and klinefelter syndrome in an adult man: striking a balance between androgen excess and insufficiency.
21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity.
21-Hydroxylase deficiency associated with an atypical CYP21A2 E6 cluster containing p.I236K.
21-hydroxylase deficiency associated with male infertility: report of 2 cases with gene analyses.
21-hydroxylase deficiency congenital adrenal hyperplasia.
21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.
21-Hydroxylase deficiency in Brazil.
21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis.
21-Hydroxylase deficiency in Italy: a distinct distribution pattern of CYP21 mutations in a sample from southern Italy.
21-Hydroxylase deficiency in the neonate - trends in steroid anabolism and catabolism during the first weeks of life.
21-Hydroxylase deficiency presenting as massive bilateral adrenal masses in the seventh decade of life.
21-hydroxylase deficiency transiently mimicking combined 21- and 11beta-hydroxylase deficiency.
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
21-hydroxylase deficiency.
21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease.
21-Hydroxylase Deficiency: Clinical Features, Laboratory Profile and Pointers to Diagnosis in Indian Children.
21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments.
21-Hydroxylase deficiency: from molecular genetics to clinical presentation.
21-Hydroxylase deficiency: HLA genotypes and hormonal phenotypes in the families of 32 Italian patients.
21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
21-hydroxylase deficiency: newborn screening in iran?
21-Hydroxylase deficiency: screening and incidence in Israel.
3 alpha-Androstanediol glucuronide in premature and normal pubarche.
3 alpha-androstanediol glucuronide in virilizing congenital adrenal hyperplasia: a useful serum metabolic marker of integrated adrenal androgen secretion.
3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age.
3?-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.
46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: association or coincidence?
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
A 46XX disorder of sex development with a prostate gland and increased level of prostate-specific antigen.
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
A Case of 11beta-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS.
A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis.
A Case of a Preterm Infant with 21-Hydroxylase Deficiency: Implications of the Biochemical Diagnosis with Urinary Pregnanetriolone by Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring (GCMS-SIM).
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
A case of first trimester prenatal diagnosis of 21-hydroxylase deficiency with human complement C4 cDNA probe.
A case of recurrent labial adhesions in a 15-month-old child with asymptomatic non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.
A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.
A case of silent 21-hydroxylase deficiency with persistent adrenal insufficiency after removal of an adrenal incidentaloma.
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency.
A chemiluminescent method for the measurement of pregnanetriol-3 alpha-glucuronide in human diluted urine.
A Comparative Study of Sexual Experiences: Women with Diabetes and Women with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency.
A contribution to the classification of cases of non-classic 21-hydroxylase-deficient congenital adrenal hyperplasia.
A Cross-Section Study of the Ontogeny of Gender Roles in Women with DSD.
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization.
A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.
A detailed investigation of hirsutism in a Turkish population: idiopathic hyperandrogenemia as a perplexing issue.
A Diagnosis Not to Be Missed: Nonclassic Steroid 11?-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism.
A Favorable Metabolic and Antiatherogenic Profile in Carriers of CYP21A2 Gene Mutations Supports the Theory of a Survival Advantage in This Population.
A feminizing adrenocortical carcinoma in the context of a late onset 21-hydroxylase deficiency.
A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.
A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect.
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.
A Greek girl with 11?-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.
A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation.
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
A large view of CYP21 locus among Sicilians and other Populations: identification of a novel CYP21A2 variant in Sicily.
A Liquid Chromatography/Tandem Mass Spectometry Profile of 16 Serum Steroids, Including 21-Deoxycortisol and 21-Deoxycorticosterone, for Management of Congenital Adrenal Hyperplasia.
A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
A method for specific amplification and PCR sequencing of individual members of multigene families: application to the study of steroid 21-hydroxylase deficiency.
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype.
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.
A neonatal mass-screening for congenital adrenal hyperplasia in Japan.
A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
A new marker for early diagnosis of 21-hydroxylase deficiency: 3beta,16alpha,17alpha-trihydroxy-5alpha-pregnane-7,20-dione.
A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia.
A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
A novel homozygous CYP19A1 gene mutation: Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation.
A Novel Homozygous Q334X Mutation in the HSD3B2 Gene Causing Classic 3?-Hydroxysteroid Dehydrogenase Deficiency: An Unexpected Diagnosis after a Positive Newborn Screen for 21-Hydroxylase Deficiency.
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.
A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.
A paradox: elevated 21-hydroxypregnenolone production in newborns with 21-hydroxylase deficiency.
A Patient (46XX) With Congenital Adrenal Hyperplasia and Prostate Cancer: A Case Report.
A patient with 21-hydroxylase deficiency who exhibited only maternal major histocompatibility complex (MHC) antigens.
A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) versus conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasia.
A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region.
A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.
A posterior-based omega-shaped flap vaginoplasty in girls with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
A practical approach to the diagnosis of polycystic ovary syndrome.
A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia.
A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain.
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and turner syndrome.
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
A Retrospective Analysis of the Growth Pattern in Patients with Salt-wasting 21-Hydroxylase Deficiency.
A sclerosing stromal tumor of the ovary with masculinization in a premenarchal girl.
A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency.
A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency.
A Single Nucleotide Variant in the Promoter Region of 17?-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.
A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the swedish population.
A success story in congenital adrenal hyperplasia.
A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency.
A test for heterozygocity of 21-hydroxylase deficiency: preliminary report.
A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7.
A woman with salt-wasting congenital adrenal hyperplasia presenting with a mucinous ovarian cystadenoma during pregnancy.
A woman with too much facial hair. Evaluating the possibility of attenuated 21-hydroxylase deficiency in hirsutism.
Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.
Abiraterone acetate treatment lowers 11-oxygenated androgens.
Abnormal steroid excretion in gestational trophoblastic disease complicated by ovarian theca-lutein cysts.
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Absence of nonclassical congenital adrenal hyperplasia in patients with precocious adrenarche.
Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.
Accuracy of anthropometric measurements in estimating fat mass in individuals with 21-hydroxylase deficiency.
ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism.
Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight.
Acute metabolic crisis induced by vaccination in seven Chinese patients.
Adiponectin levels are high in children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
Adolescent ovarian thecoma presenting as progressive hyperandrogenism: case report and review of the literature.
Adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency have vascular dysfunction.
Adrenal 21-hydroxylase deficiency in childhood: 25 years' experience.
Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status.
Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.
Adrenal androgenic response to 2-hour ACTH stimulation test in women with PCOS.
Adrenal C11-oxy C21 steroids contribute to the C11-oxy C19 steroid pool via the backdoor pathway in the biosynthesis and metabolism of 21-deoxycortisol and 21-deoxycortisone.
Adrenal disease in pregnancy.
Adrenal disorders in pregnancy.
Adrenal incidentalomas: adrenal hemangioma in a patient with congenital adrenal hyperplasia.
Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: consequence or coincidence?
Adrenal lymphocytic infiltration and adrenocortical tumors in a patient with 21-hydroxylase deficiency.
Adrenal myelolipoma associated with congenital adrenal 21-hydroxylase deficiency.
Adrenal myelolipoma associated with endocrine dysfunction: review of the literature.
Adrenal Myelolipomas in Patients with Congenital Adrenal Hyperplasia: Review of the Literature and a Case Report.
Adrenal nodules in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: regression after adequate hormonal control.
Adrenal response to adrenocorticotropin hormone and HLA typing of subjects with different degrees of 21-hydroxylase deficiency.
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.
Adrenal status during the first month of life in mature and premature human infants.
Adrenal steroidogenesis in heterozygotes for 21-hydroxylase deficiency.
Adrenal steroidogenic defects in children with precocious pubarche.
Adrenal steroidogenic function in a black and Hispanic population with precocious pubarche.
Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy.
Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia.
Adrenal tumors associated with inadequately treated congenital adrenal hyperplasia.
Adrenal tumour associated with silent 21-hydroxylase deficiency in a male or with a classic form of 21-hydroxylase defect in a female?
Adrenal tumour associated with silent 21-hydroxylase deficiency in a male.
Adrenal virilism due to 21-hydroxylase deficiency in the postmenarchial female.
Adrenal-derived 11-Oxygenated 19-Carbon Steroids are the Dominant Androgens in Classic 21-Hydroxylase Deficiency.
Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenarche does not occur in treated patients with congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Adrenocortical adenoma associated with inadequately treated congenital adrenal hyperplasia.
Adrenocortical hydroxylase deficiencies in acne vulgaris.
Adrenocortical incidentaloma with uncertain prognosis associated with an inadequately treated congenital adrenal hyperplasia.
Adrenocortical tumor in a patient with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Adrenocortical tumor in a patient with untreated congenital adrenocortical hyperplasia owing to 21-hydroxylase deficiency: characterization of steroidogenic lesions.
Adrenocortical tumour in untreated congenital adrenocortical hyperplasia associated with inadequate ACTH suppressibility.
Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.
Adrenocorticotropic hormone and 17-hydroxyprogesterone levels during high-dose glucocorticoid supplement for the management of clitoroplasty of CYP21A2 deficiency.
Adrenocorticotropin hypersecretion and pituitary microadenoma following bilateral adrenalectomy in a patient with classic 21-hydroxylase deficiency.
Adrenogenital syndrome: unusual presentation in an adult.
Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.
Adrenomedullary Function in Patients with Nonclassic Congenital Adrenal Hyperplasia.
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.
Adult consequences of congenital adrenal hyperplasia.
Adult height of subjects with nonclassical 21-hydroxylase deficiency.
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease.
Adult women with 21-hydroxylase deficient congenital adrenal hyperplasia, surgical and psychological aspects.
Adult-onset familial adrenal 21-hydroxylase deficiency.
Age of appearance of circadian rhythm in blood 17-hydroxyprogesterone in 21-hydroxylase deficiency.
Age-related changes in adrenal size during the first year of life in normal newborns, infants and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: comparison of ultrasound and hormonal parameters.
Age-specific changes in sex steroid biosynthesis and sex development.
Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency.
Aldosterone signaling defect in young infants: single-center report and review.
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia.
Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
Alternate day prednisone therapy in congenital adrenal hyperplasia: adrenal androgen suppression and normal growth.
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
Ambiguous genitalia: what prenatal genetic testing is practical?
Amenorrhea related to progestin excess in congenital adrenal hyperplasia.
Amniotic 17-alpha hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-alpha hydroxylase deficiency--congenital adrenal hyperplasia.
Amniotic fluid 17-hydroxyprogesterone in early pregnancy.
Amniotic fluid levels of 17 alpha-hydroxyprogesterone during human pregnancy: pre-natal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Amniotic fluid steroid levels and fetal adrenal weight in congenital adrenal hyperplasia.
An 88-year-old woman diagnosed with adrenal tumor and congenital adrenal hyperplasia: connection or coincidence?
An AAVrh10-CAG-CYP21-HA vector allows persistent correction of 21-hydroxylase deficiency in a Cyp21
An acth-secreting pituitary tumour arising in a patient with congenital adrenal hyperplasia.
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
An improved method for the detection of heterozygosity of congenital virilizing adrenal hyperplasia.
An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.
An update of congenital adrenal hyperplasia.
An update on the frequency of nonclassic deficiency of adrenal 21-hydroxylase in the Yugoslav population.
An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
An update on the role of RANKL-RANK/osteoprotegerin and WNT-ß-catenin signaling pathways in pediatric diseases.
Analysis of 52 C19 and C21 steroids by UPC2-MS/MS: Characterising the C11-oxy steroid metabolome in serum.
Analysis of blood spot 17 alpha-hydroxyprogesterone concentration in neonates.
Analysis of Four Common Salt-Wasting Mutations in CYP21 (Steroid 21-Hydroxylase) by Cleavase Fragment Length Polymorphism Analysis and Characterization of a Frequent Polymorphism in Intron 6.
Analysis of glucocorticoid metabolites in the neonatal period: catabolism of cortisone acetate by an infant with 21-hydroxylase deficiency.
Analysis of mutations causing steroid 21-hydroxylase deficiency.
Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China.
Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency.
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.
Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
Androgen excess and diagnostic steroid biomarkers for nonclassic 21-hydroxylase deficiency without cosyntropin stimulation.
Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia.
Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency.
Androgen suppressive effect of GnRH agonist in ovarian hyperthecosis and virilizing tumours.
Androgen synthesis in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Androgen-related effects on peripheral glucose metabolism in women with congenital adrenal hyperplasia.
Androgens and ankylosing spondylitis: a role in the pathogenesis?
Androgens in Congenital Adrenal Hyperplasia.
Androglottia in a young female adolescent with congenital adrenal hyperplasia and 21-hydroxylase deficiency.
Androstanediolglucuronide: a parameter for peripheral androgen activity before and during therapy with cyproterone acetate.
Androstenedione aromatization as a cause of gynecomastia in 11beta-hydroxylase and 21-hydroxylase deficiencies.
Angiotensin and adrenal steroidogenesis: study of 21-hydroxylase-deficient congenital adrenal hyperplasia.
Antenatal diagnosis and treatment of congenital adrenal hyperplasia.
Antenatal diagnosis of congenital adrenal hyperplasia.
Antipyrine clearance in congenital adrenal hyperplasia.
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome.
Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia.
Application of Principal Component Analysis to Newborn Screening for Congenital Adrenal Hyperplasia.
Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Approach to the patient: the adult with congenital adrenal hyperplasia.
Aromatase Inhibitor Increases the Height of Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Ascertainment of 21-hydroxylase deficiency in individuals with HLA-B14 haplotype.
Assay of steroids by liquid chromatography-tandem mass spectrometry in monitoring 21-hydroxylase deficiency.
Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm.
Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency.
Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning.
Assessment of health-related quality of life in Egyptian children and adolescents with congenital adrenal hyperplasia.
Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome.
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
Assessment of the one hour adrenocorticotrophic hormone test in the diagnosis of attenuated 21-hydroxylase deficiency.
Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.
Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.
Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency.
Attenuated forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Audit of care of patients with congenital adrenal hyperplasia due to 21-Hydroxylase deficiency in a referral hospital in South India.
Augmented 17 alpha-hydroxyprogesterone response to ACTH stimulation as evidence of decreased 21-hydroxylase activity in patients with incidentally discovered adrenal tumours ('incidentalomas').
Automated, fast and sensitive quantification of 17 alpha-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction.
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS.
Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
Basal and adrenocorticotropic hormone-stimulated serum 17 alpha-hydroxyprogesterone in men with idiopathic infertility.
Basic and clinical aspects of congenital adrenal hyperplasia.
Behavioral assessment of females with congenital adrenal hyperplasia.
Behavioral effects of prenatal versus postnatal androgen excess in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.
Benign testicular tumors in children with congenital adrenal hyperplasia.
BILATERAL ADRENAL AND TESTICULAR MASS IN A PATIENT WITH CONGENITAL ADRENAL HYPERPLASIA.
Bilateral adrenal incidentaloma caused by 21-hydroxylase deficiency in an adult.
Bilateral adrenal myelolipoma associated with adrenogenital syndrome.
Bilateral adrenal myelolipomas associated With 21-hydroxylase deficiency.
Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia.
Bilateral adrenalectomy for severe hypertension in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency: Long term follow-up.
Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency.
Bilateral ovary adrenal rest tumor in a congenital adrenal hyperplasia following adrenalectomy.
Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Biochemical and genetic diagnosis of 21-hydroxylase deficiency.
Biochemical aspects of congenital adrenal hyperplasia.
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.
Bioelectrical Impedance Phase Angle and Its Determinants in Patients with Classic Congenital Adrenal Hyperplasia.
Birth Sizes of Neonates with Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency.
Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.
Blood pressure in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Blood Pressure in the First Year of Life in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: A Pilot Study.
Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age.
Blood-spot 17 alpha-hydroxyprogesterone radioimmunoassay in the follow-up of congenital adrenal hyperplasia.
Blood-spot 17-hydroxyprogesterone daily profiles in infants with congenital adrenal hyperplasia.
Blood-spot 17-hydroxyprogesterone in nonclassical 21-hydroxylase deficiency.
Blunted adrenarche in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Bone density in young patients with congenital adrenal hyperplasia.
Bone growth oscillation: longitudinal metabolic process of bone growth in congenital adrenal hyperplasia and nonendocrine short stature.
Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency after glucocorticoid treatment since infancy.
Bone Mass in Young Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Bone mineral density and body composition in congenital adrenal hyperplasia.
Bone mineral density and body composition in prepubertal and adolescent patients with the classical form of 21-hydroxylase deficiency.
Bone mineral density and bone turnover in Romanian children and young adults with classical 21-hydroxylase deficiency are influenced by glucocorticoid replacement therapy.
Bone mineral density and trabecular bone score in patients with 21-hydroxylase deficiency after glucocorticoid treatment.
Bone mineral density in girls with classical congenital adrenal hyperplasia due to CYP21 deficiency.
Bone mineral density in relation to glucocorticoid substitution therapy in adult patients with 21-hydroxylase deficiency.
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia.
Bone mineral status in children with congenital adrenal hyperplasia.
Bone mineral status in Egyptian children with classic congenital adrenal hyperplasia. A single-center study from Upper Egypt.
Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia.
Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency.
Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia.
Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.
Capillary gas chromatography as a tool for characterization of urinary steroid excretion in patients with congenital adrenal hyperplasia.
Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency.
Cardiovascular disease risk in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular risk factors and increased carotid intima-media thickness in young patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Carotid Intima-Media Thickness Is Associated with Increased Androgens in Adolescents and Young Adults with Classical Congenital Adrenal Hyperplasia.
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne.
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
Carriers of a classic CYP21A2 mutation have a reduced mortality. A population-based national cohort study.
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.
CH-8 Phenotype in Steroid 21-Hydroxylase Deficiency: Fact or Fancy?
Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.
Challenges in Prenatal Treatment with Dexamethasone.
Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia.
Changes in size and sonographic characteristics of the adrenal glands during the first year of life and the sonographic diagnosis of adrenal hyperplasia in infants with 21-hydroxylase deficiency.
Changes of several adrenal delta 4-steroids measured by HPLC-UV spectrometry in neonatal patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
Characterization of gene rearrangements and gene conversion events in the 21-hydroxylase gene.
Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency.
Childhood-onset congenital adrenal hyperplasia: long-term outcome and optimization of therapy.
Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life.
Chimeric CYP21A1P/CYP21A2 Genes Identified in Czech Patients with Congenital Adrenal Hyperplasia.
Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
Chlormadinone acetate as a possible effective agent for congenital adrenal hyperplasia to suppress elevated ACTH and antagonize masculinization.
Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.
Circadian variation of plasma 17-hydroxyprogesterone among heterozygotic carriers of 21-hydroxylase deficiency (salt-losing form).
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.
Classic congenital adrenal hyperplasia and puberty.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.
Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density.
Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults.
Clémentine Delait (1865-1934), the most famous bearded lady on the continent in the 20th century.
Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency.
Clinical and endocrinological aspects of 21-hydroxylase deficiency.
Clinical and genetic characterization of nonclassic 21-hydroxylase deficiency.
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11?-Hydroxylase Deficiency.
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clinical and molecular review of atypical congenital adrenal hyperplasia.
Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia.
Clinical audit concerning the quality of management in patients with classic form of congenital adrenal hyperplasia.
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era.
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood.
Clinical Features of an Unrecognized 21-hydroxylase Deficiency Woman During Controlled Ovarian Hyperstimulation.
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche.
Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes.
Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase.
Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clinical outcomes in 21-hydroxylase deficiency.
Clinical outcomes in the management of congenital adrenal hyperplasia.
Clinical perspectives in congenital adrenal hyperplasia due to 3?-hydroxysteroid dehydrogenase type 2 deficiency.
Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency.
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
Clinical significance of 11-oxygenated androgens.
Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height.
Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.
Clinically silent congenital adrenal hyperplasia masquerading as ectopic adrenocorticotropic hormone syndrome.
Clitoroplasty with preservation of neurovascular pedicles.
Cloning and expression of cDNA encoding a bovine adrenal cytochrome P-450 specific for steroid 21-hydroxylation.
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
Cognitive functioning in female patients with 21-hydroxylase deficiency.
Cognitive Outcome in Adult Women Affected by Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cold stress and congenital adrenal hyperplasia heterozygotes.
Colonic mucosal potential differences in the management of 21-hydroxylase deficiency.
Combined 21- and 11 beta-hydroxylase deficiency in familial congenital adrenal hyperplasia.
Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.
Comparing the Southern blot method and polymerase chain reaction product analysis for chimeric RCCX detection in CYP21A2 deficiency.
Comparison between buserelin and dexamethasone testing in the assessment of hirsutism.
Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia.
Comparison of different glucocorticoid regimens in the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Comparison of separation techniques in radioimmunoassays for 17-hydroxyprogesterone.
Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency.
Comparison of three commercial assays for the measurement of 17alpha-hydroxyprogesterone (17alpha-OHPR): limitations of the quality control system.
Comparison of two different radioimmunoassays to measure 17-hydroxyprogesterone during treatment monitoring of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Compensatory growth after HLA-typing revelation of incorrect diagnosis of 21-hydroxylase deficiency.
Compensatory maturational deceleration of growth or "catch-down growth" in patients with congenital adrenal hyperplasia after delayed initiation of therapy.
Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.
Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.
Complement C4 allotypes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: further evidence for different allelic variants at the 21-hydroxylase locus.
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Complement genes of the major histocompatibility complex (complotypes), extended haplotypes and disease markers.
Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia.
Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency.
Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.
Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Comprehensive Mutation Analysis of the CYP21A2 Gene: An Efficient Multistep Approach to the Molecular Diagnosis of Congenital Adrenal Hyperplasia.
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency.
Concentration of 14 steroid hormones in human amniotic fluid of midpregnancy.
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis.
Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life.
Congenital adrenal hyperplasia - Pharmacologic interventions from the prenatal phase to adulthood.
Congenital adrenal hyperplasia and brain magnetic resonance imaging abnormalities.
Congenital adrenal hyperplasia and luteal dysfunction.
Congenital adrenal hyperplasia and multiple sclerosis: is there an increased risk of multiple sclerosis in individuals with congenital adrenal hyperplasia?
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.
Congenital adrenal hyperplasia and pregnancy.
Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study.
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome.
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists.
Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems.
Congenital adrenal hyperplasia caused by defect in steroid 21-hydroxylase. Establishment of definitive urinary steroid excretion pattern during first weeks of life.
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.
Congenital adrenal hyperplasia diagnosed in a man during workup for bilateral adrenal masses.
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency: final diagnosis in adult age in three patients.
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age.
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--the adult woman.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review of current knowledge.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty.
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.
Congenital adrenal hyperplasia due to combined 21- and 11 beta-hydroxylase deficiency.
Congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency. A study of five cases.
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Congenital adrenal hyperplasia family studies using the short ACTH test.
Congenital adrenal hyperplasia in a 66-year-old female.
Congenital adrenal hyperplasia in adults.
Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores.
Congenital adrenal hyperplasia in pregnancy.
Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis.
Congenital adrenal hyperplasia in the Bahamas due to 21-hydroxylase deficiency.
Congenital adrenal hyperplasia in Turkey: a review of 273 patients.
Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl.
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Growth, development, and therapeutic considerations.
Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: report of two patients with 21-hydroxylase deficiency.
Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
Congenital adrenal hyperplasia with 47, XXY Klinefelter syndrome.
Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report.
Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study.
Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?
Congenital Adrenal Hyperplasia-When Clinical Symptoms Are Missing.
Congenital adrenal hyperplasia.
Congenital Adrenal Hyperplasia.
Congenital adrenal hyperplasia. Molecular insights learned from patients.
Congenital adrenal hyperplasia. Plasma and urinary steroid conjugates in seven children with steroid 21-hydroxylase deficiency.
Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy.
Congenital adrenal hyperplasia: an update in children.
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Congenital adrenal hyperplasia: diagnostic advances.
Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment.
Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.
Congenital adrenal hyperplasia: is there an effect on penile growth?
Congenital adrenal hyperplasia: issues in diagnosis and treatment in children.
Congenital adrenal hyperplasia: management during critical illness.
Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency.
Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.
Congenital adrenal hyperplasia: phenotype and genotype.
Congenital adrenal hyperplasia: renin and steroid values during treatment.
Congenital Adrenal Hyperplasia: Review from a Surgeon's Perspective in the Beginning of the Twenty-First Century.
Congenital adrenal hyperplasia: surgical considerations required to repair a 46,XX patient raised as a boy.
Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.
Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol.
Congenital adrenal hyperplasia: transition from chil dhood to adulthood.
Congenital adrenal hyperplasia: Treatment and outcomes.
Congenital Adrenal Hyperplasia: Unresolved Issues.
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.
Consanguinity in question in two patients with congenital adrenal hyperplasia who bear an identical first and last name--second look.
Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society.
Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Horm res 2002;58:188-195.
Conventional molecular diagnosis of steroid 21-hydroxylase deficiency using mismatched primers and polymerase chain reaction.
Correction: Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency.
CORRIGENDUM FOR "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline".
Corrigendum to: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline".
Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Cortisol and aldosterone responses to hypoglycemia and Na depletion in women with non-classic 21-hydroxylase deficiency.
Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish.
Cross-reactivity of steroid hormone immunoassays: clinical significance and two-dimensional molecular similarity prediction.
Cross-talk between T cells and osteoclasts in bone resorption.
Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.
Current status of neonatal screening for congenital adrenal hyperplasia.
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.
Cushing's disease in a patient with steroid 21-hydroxylase deficiency.
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands.
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.
CYP21 mutations and congenital adrenal hyperplasia.
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families.
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children.
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia.
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica.
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
Cyproterone acetate-ethinyl estradiol treatment alters urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women.
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
Cytochrome p450-dependent disposition of the enantiomers of citalopram and its metabolites: In vivo studies in Sprague-Dawley and Dark Agouti rats.
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
Daily profiles of salivary cortisol in hydrocortisone treated children with congenital adrenal hyperplasia.
de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.
Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
Decreased bone mineral density and vertebral compression fractures in a young adult male with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH): is CAH an unrecognized population at risk for glucocorticoid-induced osteoporosis?
Decreased cortisol secretion in nonclassical 21-hydroxylase deficiency before and during glucocorticoid therapy.
Decreased levels of steroid 21-hydroxylase [P450(c21)] and its mRNA in an adrenocortical adenoma associated with 21-hydroxylase deficiency.
Decreased melatonin secretion in a phenotypically male 46,XX patient with classic 21-hydroxylase deficiency.
Defective antigen presentation and novel structural properties of DR1 from an HLA haplotype associated with 21-hydroxylase deficiency.
Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study.
Definitive diagnosis of enzymatic deficiencies of steroidogenesis in at-risk newborns and infants by urinary marker analysis using GC/MS-SIM.
Dehydroepiandrosterone induces a neuroendocrine phenotype in nerve growth factor-stimulated chromaffin pheochromocytoma PC12 cells.
Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening.
Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency.
Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency.
Delayed diagnosis of infants with abnormal neonatal screens.
Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency.
Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism.
Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
Deletion pattern in the 21-hydroxylase gene detected by polymerase chain reaction.
Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in macedonian patients with congenital adrenal hyperplasia and their relatives.
Detection and management of late-onset 21-hydroxylase deficiency in women with hyperandrogenism.
Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods.
Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.
Detection of functional ovarian hyperandrogenism in women with androgen excess.
Detection of heterozygote of 21-hydroxylase deficiency.
Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement.
Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents.
Detection of late-onset 21-hydroxylase deficiency congenital adrenal hyperplasia in adolescents.
Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization.
Detection of RXFP1 receptors in skin biopsies from children with congenital adrenal hyperplasia: A preliminary report.
Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
Detection of the heterozygous state in siblings of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Determination of 17-hydroxyprogesterone in plasma by stable isotope dilution/benchtop liquid chromatography-tandem mass spectrometry.
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.
Development of a direct fluoroimmunoassay for serum levels of 17-hydroxyprogesterone.
Development of a direct [125I]radioimmunoassay for serum levels of 17-hydroxyprogesterone.
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Development of Graves' hyperthyroidism caused an adrenal crisis in a patient with previously unrecognized non-classical 21-hydroxylase deficiency.
Development of multiple adrenal myelolipomas after trauma-induced adrenal haemorrhage.
Development of plasma 21-deoxycortisol radioimmunoassay and application to the diagnosis of patients with 21-hydroxylase deficiency.
Developmental and functional biology of the primate fetal adrenal cortex.
Dexamethasone Induces Germ Cell Apoptosis in the Human Fetal Ovary.
Dexamethasone treatment of congenital adrenal hyperplasia in utero: an experimental therapy of unproven safety.
Dexamethasone-suppressible adrenal tumour in untreated 21-hydroxylase deficiency.
Diagnosis and management of classical congenital adrenal hyperplasia.
Diagnosis and management of congenital adrenal hyperplasia.
Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline [Opinion].
Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants.
Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroids.
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry.
Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe.
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
Diagnostic approach to the newborn with ambiguous genitalia.
Difference in transcriptional activity of two homologous CYP21A genes.
Different states of clinical control are associated with changes in IGF-I and IGFBPs in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.
Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Disorders of sex development and female reproductive capacity: A literature review.
Disproportionate suppression of dehydroepiandrosterone sulfate (DHEAS) in treated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Dissociation of plasma renin activity and plasma aldosterone level during dexamethasone suppression test in non-salt-losers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Distinctive plasma aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone profile in the 21-, 17 alpha-, and 11 beta-hydroxylase deficiency types of congenital adrenal hyperplasia.
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.
Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia.
Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.
Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Diversity of the CYP21P-like gene in CYP21 deficiency.
Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency.
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.
Duration of suppression of adrenal steroids after glucocorticoid administration.
Dynamics of 24-hour pulsatile cortisol, 17-hydroxyprogesterone, and androstenedione release in prepubertal patients with nonclassic 21-hydroxylase deficiency and normal prepubertal children.
E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Early Adiposity Rebound Predicts Obesity and Adiposity in Youth with Congenital Adrenal Hyperplasia.
Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency.
Early diagnosis of congenital adrenal hyperplasia by measurement of 17-hydroxyprogesterone.
Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency.
Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome.
Early hypertension and prolonged mineralocorticoid therapy discontinuation in a child with salt-wasting 21-hydroxylase deficiency.
Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes.
Ectopic adrenal rests in congenital adrenal hyperplasia as a cause of androgen excess after adrenalectomy detected by pelvic venous sampling.
Effect of adrenocorticotropic hormone and human chorionic gonadotropin before and after bilateral oophorectomy in a patient with acquired adult-onset adrenal hyperplasia: a case report.
Effect of aminoglutethimide on urinary steroid excretion in patients with congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency.
Effect of androgen excess and glucocorticoid exposure on metabolic risk profiles in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Effect of carbenoxolone on the plasma renin activity and hypothalamic-pituitary-adrenal axis in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis.
Effect of cortisol treatment on hormonal relationships in congenital adrenal hyperplasia.
Effect of hydrocortisone dose schedule on adrenal steroid secretion in congenital adrenal hyperplasia.
Effect of Long-Term Glucocorticoid Therapy on Cardiac Functions in Children with Congenital Adrenal Hyperplasia.
Effect of naloxone on the neuropsychiatric symptoms of a woman with partial adrenal 21-hydroxylase deficiency.
Effects of adrenal steroids on the bone metabolism of children with congenital adrenal hyperplasia.
Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency.
Effects of continued adrenocorticotropin stimulation on the mineralocorticoid hormones in classical and nonclassical simple virilizing types of 21-hydroxylase deficiency.
Effects of fetal androgen on childhood behavior.
Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency.
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
Efficacy and safety of prenatal dexamethasone treatment in offspring at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A systematic review and meta-analysis.
Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.
Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates.
Elevation of serum luteinizing hormone levels during hydrocortisone treatment in infant girls with 21-hydroxylase deficiency.
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Endocrinologic and psychologic evaluation of 21-hydroxylase deficiency carriers and matched normal subjects: evidence for physical and/or psychologic vulnerability to stress.
Endocrinological and genetic studies in patients with Polycystic Ovary Syndrome (PCOS).
Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Endocrinology Update: Hirsutism.
Enzyme immunoassay for plasma renin activity: II. Clinical application.
Enzyme-linked immunosorbent assay (ELISA) method for screening of non-classical steroid 21-hydroxylase deficiency.
Epidemiologic study of adrenal gland disorders in Japan.
Epidemiology of 21-hydroxylase deficiency in Singapore.
Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.
Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience.
Evaluation of 21-deoxycortisol as a marker for the detection of heterozygous carriers of 21-hydroxylase deficiency.
Evaluation of Adrenomedullary Function in Patients with Congenital Adrenal Hyperplasia.
Evaluation of impact of steroid replacement treatment on bone health in children with 21-hydroxylase deficiency.
Everything the pediatrician ever wanted to know about HLA but was afraid to ask.
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.
Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia.
Exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation and evidence for CYP21B gene point mutations in true precocious puberty.
Exchangeable sodium and aldosterone secretion in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Excretion pattern of 3 beta-hydroxysteroids in patients with adrenal tumor, Cushing's disease and 21-hydroxylase deficiency, and in pregnancy, using thin-layer chromatography and color development of 3 beta-hydroxysteroids with 3 beta-hydroxysteroid oxidase.
Executive functioning in children with congenital adrenal hyperplasia.
Experts' Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency - Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No.?174/013, July 2015).
Exposure to Glucocorticoids in the First Part of Fetal Life is Associated with Insulin Secretory Defect in Adult Humans.
Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families.
Extended MHC haplotypes in 21-hydroxylase-deficiency congenital adrenal hyperplasia: shared genotypes in unrelated patients.
Extended MHC haplotypes in salt-losing 21-hydroxylase deficiency.
Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3?-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Extensive clinical experience: nonclassical 21-hydroxylase deficiency.
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.
Extraadrenal steroid 21-hydroxylase activity in a woman with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Extraovarian steroid cell tumor 'not otherwise specified' as a rare cause of virilization in twelve-year-old girl.
Failure of angiotensin II to stimulate increases in concentrations of adrenal androgens, 17-hydroxyprogesterone, or adrenocorticotropin in congenital 21-hydroxylase deficiency.
Failure of cortisone acetate therapy in 21-hydroxylase deficiency in early infancy.
Failure of cortisone acetate treatment in congenital adrenal hyperplasia because of defective 11beta-hydroxysteroid dehydrogenase reductase activity.
False elevation of serum cortisol in chemiluminescence immunoassay by Siemens Advia Centaur XP system in 21-hydroxylase deficiency: an 'endocrine laboma'.
False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.
Familial hypersecretion of adrenal androgens transmitted as a dominant, non-HLA linked trait.
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.
Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening.
Female pseudohermaphroditism and inefficient peak bone mass in an untreated subject affected by 21-hydroxylase congenital adrenal hyperplasia.
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
Female pseudohermaphroditism due to congenital adrenal hyperplasia complicated by adenocarcinoma of the prostate and clear cell carcinoma of the endometrium.
Female pseudohermaphroditism with adrenal cortical tumor in adulthood.
Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year-old female with congenital adrenal hyperplasia.
Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency.
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia.
Fetal drug therapy.
Fetal sex determination from maternal blood at 6 weeks of gestation when at risk for 21-hydroxylase deficiency.
Final Adult Height in Children with Congenital Adrenal Hyperplasia Treated with Growth Hormone.
Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience.
Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism.
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.
First insights into the genetics of 21-hydroxylase deficiency in the Roma population.
First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.
First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).
Five patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (one with associated neuroblastoma) discovered in three generations of one family.
Fluorescence high performance liquid chromatographic determination of 3 alpha-hydroxysteroids in urine of 21-hydroxylase deficiency.
Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Flutamide decreases cortisol clearance in patients with congenital adrenal hyperplasia.
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency.
Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency.
Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states.
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of Congenital Adrenal Hyperplasia.
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
Functional and structural analysis of four novel mutations of CYP21A2 gene in italian patients with 21-hydroxylase deficiency.
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Functional consequences of a novel point mutation in the CYP21A2 gene identified in a Chinese Han patient with nonclassic 21-hydroxylase deficiency.
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene.
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
Gender assignment for children with intersex problems: An Egyptian perspective.
Gender Dichotomy in Long Term Growth Trajectories of Children with 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
Gender Identity in Patients with Congenital Adrenal Hyperplasia.
Gender related differences in glucocorticoid therapy and growth outcomes among pubertal children with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH).
Gender role across development in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
Gender roles and behavioral problems in children with 21-hydroxylase deficiency in Southern China.
Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein.
Gene conversion in steroid 21-hydroxylase genes.
Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types.
Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis.
Gene frequencies and genetic linkage disequilibrium for the HLA-linked genes Bf, C2, C4S, C4F, 21-hydroxylase deficiency, and glyoxalase I.
Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency.
Gene symbol: CYP21A2. Disease: steroid 21-hydroxylase deficiency.
Gene- and environment-dependent neuroendocrine etiogenesis of homosexuality and transsexualism.
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population.
Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.
Genetic aetiology of primary adrenal insufficiency in Chinese children.
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21.
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.
Genetic analysis of two Japanese patients with non-classical 21-hydroxylase deficiency.
Genetic and Clinical Features of P450 Oxidoreductase Deficiency.
Genetic and epigenetic effects on sexual brain organization mediated by sex hormones.
Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.
Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Genetic defects in pediatric-onset adrenal insufficiency in Japan.
Genetic defects of steroidogenesis in premature pubarche.
Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21.
Genetic diseases of steroid metabolism.
Genetic disruption of 21-hydroxylase in zebrafish causes interrenal hyperplasia.
Genetic linkage and HLA association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequencies.
Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.
Genetic structure of the Greek gypsies.
Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency.
Genetics of adrenal steroid 21-hydroxylase deficiency.
Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
Genetics of Congenital Adrenal Hyperplasia.
Genetics of steroid 21-hydroxylase deficiency.
Genotype and clinical outcomes in children with congenital adrenal hyperplasia.
Genotype and hormonal phenotype in nonclassical 21-hydroxylase deficiency.
GENOTYPE IN THE DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY: WHO SHOULD UNDERGO CYP21A2 ANALYSIS?
Genotype of classic congenital adrenal hyperplasia and the 60-minute adrenocorticotropic hormone stimulation test.
Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency.
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.
Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia.
Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba.
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.
Gestational age correlates to genotype in girls with CYP21 deficiency.
Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase deficiency.
Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma.
Giant Bilateral Symptomatic Adrenal Myelolipomas Associated with Congenital Adrenal Hyperplasia.
Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia.
Glucocorticoid receptors in patients with congenital adrenal hyperplasia.
Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.
Glucocorticoid-induced increase in lymphocytic FKBP51 messenger ribonucleic acid expression: a potential marker for glucocorticoid sensitivity, potency, and bioavailability.
Glucocorticoid-induced osteoporosis in children with 21-hydroxylase deficiency.
Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia.
Gonadal and adrenal sex steroids in ankylosing spondylitis.
Growth analysis in patients with 21-hydroxylase deficiency influence of glucocorticoid dosage, age at diagnosis, phenotype and genotype on growth and height outcome.
Growth and final height in classical and nonclassical 21-hydroxylase deficiency.
Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Growth and reproductive outcomes in congenital adrenal hyperplasia.
Growth curves for congenital adrenal hyperplasia from a national retrospective cohort.
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
Growth Hormone Response To Physical Exercise in Growing Patients with Classic Congenital Adrenal Hyperplasia.
Growth in congenital adrenal hyperplasia.
Growth in disorders of adrenal hyperfunction.
Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height.
Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy.
Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.
Growth pattern and final height in 21-hydroxylase deficiency.
Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency).
Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life.
Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study.
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).
H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency.
H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency.
Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.
Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.
Health Problems in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Health problems of adolescent and adult patients with 21-hydroxylase deficiency.
Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil.
Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis.
Height outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Evidence from recent data.
Height Velocity defined metabolic Control in Children with Congenital Adrenal Hyperplasia using urinary GC-MS Analysis.
Height, bone mineral density and bone markers in congenital adrenal hyperplasia.
Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
Heterogeneity of steroid 21-hydroxylase genes in classical congenital adrenal hyperplasia.
Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.
Heterozygotes and cryptic patients in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency). HLA and glyoxalase I typing and hormonal studies.
High 17-hydroxyprogesterone level in newborn screening test for congenital adrenal hyperplasia.
High carrier frequency of 21-hydroxylase deficiency in Cyprus.
High dickkopf-1 levels in sera and leukocytes from children with 21-hydroxylase deficiency on chronic glucocorticoid treatment.
High frequency of Adrenal Myelolipomas and Testicular Adrenal Rest Tumours in adult Norwegian Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
High frequency of nonclassical steroid 21-hydroxylase deficiency.
High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
High frequency of splice site mutation in 21-hydroxylase deficiency children.
High prevalence of polycystic ovary syndrome in women with mild hirsutism and no other significant clinical symptoms.
High serum progesterone associated with infertility in a woman with nonclassic congenital adrenal hyperplasia.
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.
High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency.
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.
Hirsutism in the United Arab Emirates: a hospital study.
Historical milestones in endocrinology.
HLA and hormonal data for identification of heterozygotes in 11 beta- and 17 alpha-hydroxylase deficiency syndromes.
HLA and hormonal studies in 5 patients with late-onset 21-hydroxylase deficiency syndrome (21OHDS).
HLA associations in 21-hydroxylase deficiency (congenital and late-onset adrenal hyperplasia) in France.
HLA associations in late-onset 21-hydroxylase deficiency in Israel.
HLA associations in patients with polycystic ovaries and in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
HLA class I-, complement C4- and 21-hydroxylase probes in the genetic analysis of 21-hydroxylase deficiency.
HLA family study in a group of Greek women with non-classical 21-hydroxylase deficiency.
HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency.
HLA haplotypes and hormonal studies in 25 Italian families of patients with classical and non-classical 21-OH deficiency.
HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency.
HLA typing and ACTH stimulation in the detection of carriers for 21-hydroxylase deficiency.
HLA typing of patients with 21-hydroxylase deficiency in Iranian children with congenital adrenal hyperplasia.
HLA-B14 and nonclassical 21-hydroxylase deficiency in a heterogeneous New York population.
Home monitoring of 17 alpha-hydroxyprogesterone levels by filter paper blood spots in patients with 21-hydroxylase deficiency.
Home monitoring of 17 hydroxyprogesterone levels in congenitx127drenal hyperplasia with filter paper blood samples.
Hormonal and clinical responses to prednisone treatment in adolescents with congenital adrenal hyperplasia.
Hormonal and genetic analysis of a patient with congenital adrenal hyperplasia.
Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry.
Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life.
Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
Hormonal phenotype and HLA-genotype in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency).
Hormonal profiles of heterozygotes in humans for 21-hydroxylase deficiency defined by HLA B typing.
Hormonal status and clinical relevance of hirsutism in elderly women.
Hormonal therapies for individuals with intersex conditions: protocol for use.
Hormonal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
How do mutations affect the structural characteristics and substrate binding of CYP21A2? An investigation by molecular dynamics simulations.
Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency.
Human congenital anomalies: application of new genetic tools and concepts.
Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect.
Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.
Hyperandrogenism in female adolescents.
Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature.
Hyperinsulinemia and insulin insensitivity in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the relationship between serum leptin levels and chronic hyperinsulinemia.
Hypoglycemia during acute illness in children with classic congenital adrenal hyperplasia.
Hypospadias in a male patient with 21-hydroxylase deficiency.
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia.
Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone.
Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with Simple Virilizing form of congenital adrenal hyperplasia.
Identification of 15 beta-hydroxylated C21 steroids in the neo-natal period: the role of 3 alpha,15 beta,17 alpha-trihydroxy-5 beta-pregnan-20-one in the perinatal diagnosis of congenital adrenal hyperplasia (CAH) due to a 21-hydroxylase deficiency.
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. Online.
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.
Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche.
Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
Imipramine-induced inactivation of a cytochrome P450 2D enzyme in rat liver microsomes: in relation to covalent binding of its reactive intermediate.
Immunogenetics of rheumatoid arthritis.
Immunological pattern in patients with 21-hydroxylase deficiency.
Impact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiency.
Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency.
Impact of molecular genetics on congenital adrenal hyperplasia management.
Impact of nasal continuous positive airway pressure for congenital adrenal hyperplasia with obstructive sleep apnea and bruxism.
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency.
Impaired mineralocorticoid hormone responses to adrenocorticotropin stimulation: additional characterization of heterozygosity for the 21-hydroxylase deficiency type of congenital adrenal hyperplasia.
Impairment in anthropometric parameters and body composition in females with classical 21-hydroxylase deficiency.
Impairment of 11 beta-hydroxylase but not 21-hydroxylase in adrenal 'incidentalomas'.
Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand.
Implications of ultrasonically diagnosed polycystic ovaries. I. Correlations with basal hormonal profiles.
Implications of ultrasonically diagnosed polycystic ovaries. II. Studies of dynamic and pulsatile hormonal patterns.
Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention.
Improvement of health-related quality of life in adult women with 21-hydroxylase deficiency over a 7 years period.
Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours.
In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS).
Inadequate testosterone suppression after medical and subsequent surgical castration in a patient with prostate cancer.
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.
Incidence of Classical 21-Hydroxylase Deficiency and Distribution of CYP21A2 Mutations in Estonia.
Incidental Finding of Bilateral Ovarian Adrenal Rest Tumor in a Patient With Congenital Adrenal Hyperplasia: A Case Report and Brief Review.
Increase of lymphocytic H-Y antigen in female 21-hydroxylase deficiency.
Increased 17 alpha-hydroxyprogesterone response to ACTH in silent adrenal adenoma: cause or effect?
Increased Abdominal Adiposity in Adolescents and Young Adults With Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis.
Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
Increased first-trimester nuchal translucency as a prenatal manifestation of salt-wasting congenital adrenal hyperplasia.
Increased Liver Enzymes in Adult Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia.
Increased plasma 21-deoxycorticosterone (21-DB) levels in late-onset adrenal 21-hydroxylase deficiency suggest a mild defect of the mineralocorticoid pathway.
Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
Increased salt appetite in patients with congenital adrenal hyperplasia 21-hydroxylase deficiency.
Increased urinary 6-sulfatoxymelatonin excretion in women with non-classical steroid 21-hydroxylase deficiency.
Increased urinary excretion of total 16 alpha-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia.
Induction of ovulation with the sole use of clomiphene citrate in late-onset 21-hydroxylase deficiency.
Infant with classic congenital adrenal hyperplasia (CAH) born to a mother with classic CAH.
Infertility and bilateral adrenal tumors.
Infertility caused by bilateral testicular masses secondary to congenital adrenal hyperplasia (21-hydroxylase deficiency).
Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia.
Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.
Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia.
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.
Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life.
Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency.
Insulin resistance in congenital adrenal hyperplasia is compensated for by reduced insulin clearance.
Intelligence of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, their parents and unaffected siblings.
Interaction between accumulated 21-deoxysteroids and mineralocorticoid signaling in 21-hydroxylase deficiency.
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.
Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.
Intra-HLA recombinations localizing the 21-hydroxylase deficiency gene within the HLA complex.
Introduction: Contemporary perspectives on congenital adrenal hyperplasia: impacts on reproduction.
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Is heterozygosity for the steroid 21-hydroxylase deficiency responsible for hirsutism, premature pubarche, early puberty, and precocious puberty in children?
Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?
Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.
Isolated precocious pubarche: an approach.
Isolated premature pubarche: ultrasonographic and color Doppler analysis--a longitudinal study.
Isolated transient neonatal clitoromegaly with hyperandrogenism of unknown etiology.
Isosexual precocity: the clinical and etiologic profile.
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Italian extended HLA haplotypes in congenital adrenal hyperplasia.
Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
Kawasaki syndrome and 21-hydroxylase deficiency.
Lack of ACTH and androgen receptor expression in a giant adrenal myelolipoma associated with 21-hydroxylase deficiency.
Lack of correlation between sex hormone binding globulin and free testosterone in some cases of "idiopathic" hirsutism.
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
Laparoscopic subtotal hysterectomy and bilateral adnexectomy in a child with congenital adrenal hyperplasia.
Late diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Late onset 21-hydroxylase deficiency and HLA in the Ashkenazi population: a new allele at the 21-hydroxylase locus.
Late onset adrenal hyperplasia due to 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency in north Indian hirsute women.
Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne.
Late onset adrenal insufficiency after adrenalectomy due to latent nonclassical 21-hydroxylase deficiency: A case report.
Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche.
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.
Late-onset 21-hydroxylase deficiency and polycystic ovary disease. A case report.
Late-onset 21-hydroxylase deficiency is an allelic variant of congenital adrenal hyperplasia characterized by attenuated clinical expression and different HLA haplotype associations.
Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease.
Late-onset 21-hydroxylase deficiency.
Late-onset 21-hydroxylase deficiency: reliable diagnosis by steroid analysis of random urine collections.
Late-onset adrenal hyperplasia in north Indian hirsute women.
Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women.
Late-onset congenital adrenal hyperplasia in women with hirsutism.
Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.
Late-onset type of 21-hydroxylase deficiency in childhood.
LC-MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygote CYP21A2 mutation carriers.
LC-MS/MS improves screening towards 21-hydroxylase deficiency.
Letters to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline".
Leukoencephalopathy in 21-beta hydroxylase deficiency: Report of a family.
Leydig cell tumor and malignant lymphoma in a patient with nonclassical 21-hydroxylase deficiency.
Leydig Cell Tumour in a 46,XX Child with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia.
Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency.
Linear growth and pubertal development in treated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Linkage and association between HLA and 21-hydroxylase deficiency.
Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
Location of the gene for 21-hydroxylase deficiency.
Long term outcome in adult males with classic congenital adrenal hyperplasia.
Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males.
Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.
Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia.
Long-term follow-up of a female patient with non-classical 11?-hydroxylase deficiency and two novel mutations in CYP11B1.
Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty.
Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Long-term management of patients with disorders of sex development (DSD).
Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life.
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Long-Term Outcome of Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
Long-term outcome of prenatal dexamethasone treatment of 21-hydroxylase deficiency.
Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia.
Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients.
Low Adrenomedullary Function Predicts Acute Illness in Infants with Classical Congenital Adrenal Hyperplasia.
Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.
Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population.
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.
Management considerations for the adult with congenital adrenal hyperplasia.
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.
Management of 21-hydroxylase deficiency congenital adrenal hyperplasia: A survey of Canadian paediatric endocrinologists.
Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency.
Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation.
Management of CAH during pregnancy: optimizing outcomes.
Management of congenital adrenal hyperplasia during pregnancy.
Management of congenital adrenal hyperplasia using serum dehydroepiandrosterone sulfate and 17-hydroxyprogesterone concentrations.
Management of congenital adrenal hyperplasia: beyond conventional glucocorticoid therapy.
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency.
Management of the adult with congenital adrenal hyperplasia.
Management of the child with congenital adrenal hyperplasia.
Mapping of the 21-hydroxylase deficiency gene within the HLA linkage group.
Masculinizing operation for a female patient with congenital adrenocortical hyperplasia due to 21-hydroxylase deficiency.
Masked high progesterone levels during in vitro fertilization and embryo transfer treatment in a patient with 21-hydroxylase deficiency: A case report.
Massive adrenocortical adenoma following long-term treatment of 21-hydroxylase deficiency.
Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.
Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand.
Measurement of salivary adrenal-specific androgens as biomarkers of therapy control in 21-hydroxylase deficiency.
Measurement of Serum 17?-hydroxyprogesterone in Newborn Infants by Stable Isotope Dilution-Gas Chromatography/Mass Spectrometry.
Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.
Medical management of adrenal disease: a narrative review.
Meningioma in congenital adrenal hyperplasia.
Menstrual bleeding in a female infant with congenital adrenal hyperplasia: altered maturation of the hypothalamic-pituitary-ovarian axis.
Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency.
Metabolic evaluation of young women with congenital adrenal hyperplasia.
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia.
Metabolic syndrome manifestations in classic congenital adrenal hyperplasia: do they predispose to atherosclerotic cardiovascular disease and secondary polycystic ovary syndrome?
Metabolism and concentration of androgenic steroids in abdominal skin of hirsute women with androgenital syndrome.
Metabolism of glucocorticoids and mineralocorticoids in patients with adrenal incidentalomas.
Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
MHC "supratype" predicting heterozygous 21-hydroxylase deficiency.
Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
Mineralocorticoid and renal receptor binding activity of 21-deoxyaldosterone.
Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Mineralocorticoids in congenital adrenal hyperplasia.
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency.
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
Mitotane for 21-hydroxylase deficiency in an infertile man.
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.
Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency.
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia.
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.
Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
Molecular basis of 17?-hydroxylase/17,20-lyase deficiency.
Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency.
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.
Molecular biology of disorders of sex differentiation.
Molecular characterization of 21-hydroxylase deficiency in 70 Italian families.
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
Molecular characterization of a Leydig cell tumor presenting as congenital adrenal hyperplasia.
Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.
Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a study of 27 families.
Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel.
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations.
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Molecular genetic analysis in 93 patients and 193 family members with Classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in Croatia.
Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.
Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations.
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.
Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras.
Molecular genetics and the characterization of steroid 21-hydroxylase deficiency.
Molecular genetics of 21-hydroxylase deficiency.
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.
Molecular genetics of congenital adrenal hyperplasia.
Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.
Molecular pathology of 21-hydroxylase deficiency.
Molecular pathology of steroid 21-hydroxylase deficiency.
Monitoring Medical Treatment in Adolescents and Young Adults with Congenital Adrenal Hyperplasia: Utility of Salivary 17alpha-Hydroxyprogesterone Day Profiles.
Monitoring of menstrual cycles, ovulation, and adrenal suppression by saliva sampling in female patients with 21-hydroxylase deficiency.
Monitoring of therapy in congenital adrenal hyperplasia.
Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism.
Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis.
Morning salivary 17-hydroxyprogesterone is a useful screening test for nonclassical 21-hydroxylase deficiency.
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.
Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood.
Multiple pilomatricomas in association with 21-hydroxylase deficiency.
Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency.
Multiplexed steroid profiling of gluco- and mineralocorticoids pathways using a liquid chromatography tandem mass spectrometry method.
Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
Mutation Analysis of the CYP21A2 Gene in the Iranian Population.
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from transylvania (north-west Romania).
Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.
Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
Mutational Characterization of Steroid 21-Hydroxylase Gene in Portuguese patients with Congenital Adrenal Hyperplasia.
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
Mutations in steroid 21-hydroxylase (CYP21).
Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia.
Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing.
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.
Myelolipoma and endocrine dysfunction.
Natural history of premature pubarche: an auxological study.
Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China.
Neonatal mass screening for 21-hydroxylase deficiency.
Neonatal salt loss in the hypertensive form of congenital adrenal hyperplasia.
Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.
Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-alpha-hydroxyprogesterone assay.
Neonatal screening for congenital adrenal hyperplasia in Japan.
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study with 241,083 Infants
Neonatal screening for congenital adrenal hyperplasia using a microfilter paper method for 17-alpha-hydroxyprogesterone radioimmunoassay. Experience gained from the study of 22,233 cases.
Neonatal screening for congenital adrenal hyperplasia.
Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone.
Neonatal screening: identification of children with 11?-hydroxylase deficiency by second-tier testing.
New developments in prenatal diagnosis of congenital adrenal hyperplasia.
New ideas for medical treatment of congenital adrenal hyperplasia.
New identified 15 beta-hydroxylated 21-deoxy-pregnanes in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis.
Newborn screening for congenital adrenal hyperplasia in Sapporo City: sixteen years experience.
Newborn screening for congenital adrenal hyperplasia in Wisconsin.
Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry.
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.
NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.
No evidence for a difference in 2D:4D ratio between youth with elevated prenatal androgen exposure due to congenital adrenal hyperplasia and controls.
No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours.
Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society.
Non polycystic ovary syndrome-related endocrine disorders associated with hirsutism.
Non-classic 21-hydroxylase deficiency in an 18-year-old female athlete. A case report
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia.
Non-classic congenital adrenal hyperplasia.
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report.
Non-classical 21-hydroxylase deficiency in boys with prepubertal or pubertal gynecomastia.
Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.
Non-classical 21-hydroxylase deficiency in infancy and childhood: the effect of time of initiation of therapy on puberty and final height.
Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.
Non-classical 21-hydroxylase deficiency: prevalence in males with unexplained abnormal sperm analysis.
Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.
Non-functioning adrenal incidentalomas caused by 21-hydroxylase deficiency or carrier status?
Non-identical newborn twins with congenital adrenal hyperplasia.
Nonclassic 21-hydroxylase deficiency in Croatia.
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman.
Nonclassic 21-hydroxylase deficiency.
Nonclassic adrenal hyperplasia due to 21-hydroxylase deficiency.
Nonclassic congenital adrenal hyperplasia and the heterozygote carrier.
Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome.
Nonclassic congenital adrenal hyperplasia.
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan.
NONCLASSICAL 21-HYDROXYLASE DEFICIENCY PRESENTED AS ADDISON'S DISEASE AND BILATERAL ADRENAL INCIDENTALOMAS.
Nonclassical congenital adrenal hyperplasia and the polycystic ovarian syndrome.
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.
Nonisotopic detection of point mutations in CYP21B gene in steroid 21-hydroxylase deficiency.
Nonisotopic identification of two point mutations in the CYP21 gene responsible for nonclassic 21-hydroxylase deficiency.
Nonsense mutation causing steroid 21-hydroxylase deficiency.
Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype.
Normal and elevated 3 alpha-androstanediol glucuronide concentrations in women with various causes of hirsutism and its correlation with degree of hirsutism and androgen levels.
Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia.
Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis.
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Normal gestation and diminished androgen responsiveness in an untreated patient with 21-hydroxylase deficiency.
Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency.
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency.
Novel mutations in the human CYP21 gene.
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Nyctohemeral variation and suppressibility of plasma ACTH in various stages of Cushing's disease.
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Obesity and Cardiometabolic Risk Factors in Children and Young Adults With Non-classical 21-Hydroxylase Deficiency.
Obesity in 21-hydroxylase deficient patients.
Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report.
Occurrence of a virilizing syndrome with 21-hydroxylase deficiency after pregnancy.
Occurrence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia.
On the origin of the elevated 17-hydroxyprogesterone levels after adrenal stimulation in hyperandrogenism.
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.
One-year clinical evaluation of single morning dose prednisolone therapy for 21-hydroxylase deficiency.
Ontogeny of adrenal steroid biosynthesis: why girls will be girls.
Oral hydrocortisone administration in children with classic 21-hydroxylase deficiency leads to more synchronous joint GH and cortisol secretion.
Organization of the chimpanzee C4-CYP21 region: implications for the evolution of human genes.
OSTEOCLASTOGENESIS IN CHILDREN WITH 21-HYDROXYLASE DEFICIENCY ON LONG TERM GLUCOCORTICOID THERAPY: THE ROLE OF RANKL/OPG IMBALANCE.
Outcome of congenital adrenal hyperplasia.
Ovarian 'tumor' of the adrenogenital syndrome: the first reported case.
Ovarian and adrenal hyperandrogenism.
Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy.
Ovarian hyperandrogynism as a result of congenital adrenal virilizing disorders: evidence for perinatal masculinization of neuroendocrine function in women.
Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman.
Ovarian Steroid Cell Tumor Masquerading as Steroid-Unresponsive Congenital Adrenal Hyperplasia.
Ovarian steroid cell tumor, not otherwise specified, associated with congenital adrenal hyperplasia: rare tumors of an endocrine disease.
Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency.
Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Ovarian suppression with triptorelin and adrenal stimulation with adrenocorticotropin in functional hyperadrogenism: role of adrenal and ovarian cytochrome P450c17 alpha.
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
P450 Oxidoreductase Deficiency: loss of activity caused by protein instability from a novel L374H mutation.
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience.
Performance of Phalangeal Quantitative Ultrasound Parameters in the Evaluation of Reduced Bone Mineral Density Assessed By DX in Patients with 21 Hydroxylase Deficiency.
Perioperative care of congenital adrenal hyperplasia - a disparity of physician practices in Canada.
Persistent insulin resistance after normalization of androgen levels in a woman with congenital adrenal hyperplasia. A case report.
Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia.
Pharmacological agents in pregnancy to improve fetal conditions: prevention of fetal cardiac insufficiency, consequences of congenital adrenal hyperplasia and respiratory distress syndrome.
Phenotype and genotype in untreated 21-hydroxylase deficient Indonesian patients.
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
Phenotypic evolution of classic 21-hydroxylase deficiency.
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Phenotypic Profiling of Parents with Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families.
Pigmented adrenal hyperplasia with myelolipomatous changes and bilateral testicular enlargement in an untreated man with 21-hydroxylase deficiency.
Pitfall of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Pitfalls in prenatal diagnosis of 21-hydroxylase deficiency by amniotic fluid steroid analysis? A six years experience in 102 pregnancies at risk.
Pitfalls of PCR-based genotyping in patients with 21-hydroxylase deficiency.
Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia.
Pituitary gonadal axis and child rate in males with classical 21-hydroxylase deficiency.
Pituitary-adrenal axis activity in treated congenital adrenal hyperplasia: static and dynamic studies.
Pituitary-adrenal axis during human development.
Pituitary-adrenal responses to corticotropin-releasing factor in late onset 21-hydroxylase deficiency.
Pituitary-adrenal responses to corticotropin-releasing hormone in different degrees of adrenal 21-hydroxylase deficiency.
Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Plasma 11beta-hydroxy-4-androstene-3,17-dione: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunoassay using a tritiated tracer.
Plasma 21-deoxycortisol: comparison of a time-resolved fluoroimmunoassay using a biotinylated tracer with a radioimmunossay using (125)iodine.
Plasma 3 alpha-androstanediol glucuronide in normal children and in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Plasma 3 beta-hydroxy-delta 5-steroids in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Plasma adrenocorticotrophic hormone in congenital adrenal hyperplasia. Importance in long-term management.
Plasma aldosterone concentrations related to 17alpha-hydroxyprogesterone in congenital adrenal hyperplasia.
Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.
Plasma levels of androgens and 17 alpha-OH-progesterone as an index of the adequacy of treatment in congenital adrenal hyperplasia.
Plasma levels of C19 steroid glucuronides in pre-menopausal women with non-classical congenital adrenal hyperplasia.
Plasma metabolomic profile varies with glucocorticoid dose in patients with congenital adrenal hyperplasia.
Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency.
Polycythemia in a patient with 21-hydroxylase deficiency.
Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population.
Possible genetic linkage disequilibrium between HLA and the 21-hydroxylase deficiency gene (congenital adrenal hyperplasia).
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
Posterior fusion without clitoromegaly in a female with partial 21-hydroxylase deficiency.
Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues.
Postnatal virilization mimicking 21-hydroxylase deficiency in 3 very premature infants.
Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency.
Practical management of the intersex infant.
Pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency.
Precocious puberty with hypothalamic hamartoma and non classical form of congenital adrenal hyperplasia. Report of two cases.
Pregnancy in Congenital Adrenal Hyperplasia.
Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Pregnanetriol in the Range of 1.2-2.1 mg/m(2)/day as an Index of Optimal Control in CYP21A2 Deficiency.
Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening.
Pregnenolone, 17-OH-pregnenolone, and testosterone in plasma of patients with congenital adrenal hyperplasia.
Prenatal and neonatal diagnosis and treatment of congenital adrenal hyperplasia.
Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on midgestational amniotic fluid steroid levels.
Prenatal Dexamethasone Use For The Prevention Of Virilization In Pregnancies At Risk For Classical Congenital Adrenal Hyperplasia due to 21 hydroxylase (CYP21A2) deficiency: A Systematic Review And Meta-Analyses.
Prenatal diagnosis and management of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
Prenatal diagnosis and treatment of 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of adrenogenital syndrome (steroid 21-hydroxylase deficiency).
Prenatal diagnosis and treatment of congenital adrenal hyperplasia and consequences in adults.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency.
Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.
Prenatal diagnosis of 21-hydroxylase deficiency by RFLP analysis of the 21-hydroxylase, complement C4, and HLA class II genes.
Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH.
Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21-deoxycortisol and 17-hydroxyprogesterone in amniotic fluid.
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
Prenatal diagnosis of 21-hydroxylase deficiency.
Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis.
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.
Prenatal diagnosis of congenital adrenal hyperplasia (21-OH deficiency type) by HLA typing.
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH.
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.
Prenatal diagnosis of congenital adrenal hyperplasia caused by p450 oxidoreductase deficiency.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by amniotic fluid steroid analysis.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency with DNA analysis.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Prenatal diagnosis of congenital adrenal hyperplasia.
Prenatal Diagnosis of Congenital Adrenal Hyperplasia.
Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis.
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
Prenatal diagnosis of steroid 21-hydroxylase deficiency by analysis of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profiles.
Prenatal diagnosis of steroid 21-hydroxylase deficiency by the modified polymerase chain reaction to detect splice site mutation in the CYP21 gene.
Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency.
Prenatal fetal adrenal suppression following in utero diagnosis of congenital adrenal hyperplasia.
Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency.
Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study.
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a 10 year experience.
Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Prenatal treatment of congenital adrenal hyperplasia-not standard of care.
Prenatal treatment of congenital adrenal hyperplasia.
Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
Prenatal treatment of congenital adrenal hyperplasia: report of a new case.
Prepubertal acne: a cutaneous marker of androgen excess?
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.
Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas.
Prevalence and Long-term Follow-up Outcomes of Testicular Adrenal Rest Tumors in Children and Adolescent Males with Congenital Adrenal Hyperplasia.
Prevalence of adrenal 21-hydroxylase deficiency in neonates born in the West Midlands: a retrospective study.
Prevalence of late-onset adrenal hyperplasia in postmenarchal hirsutism.
Prevalence of non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with acne: a hospital-based cross-sectional study.
Prevalence of nonclassical congenital adrenal hyperplasia among women self-referred for electrolytic treatment of hirsutism.
Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study.
Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia.
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.
Primary infertility in 45-year-old man with untreated 21-hydroxylase deficiency: successful outcome with glucocorticoid therapy.
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.
Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Production of 11-oxygenated androgens by testicular adrenal rest tumors.
Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency.
Profiles of ligands of sex hormone binding globulin in human serum.
Profiling steroid hormones in amniotic fluid of midpregnancy by routine stable isotope dilution/gas chromatography-mass spectrometry: reference values and concentrations in fetuses at risk for 21-hydroxylase deficiency.
Prolonged activation of hypothalamo-pituitary-ovarian axis during early infancy in female patients with salt-losing 21-hydroxylase deficiency.
Protein kinase A, protein kinase C, and Ca(2+)-regulated expression of 21-hydroxylase cytochrome P450 in H295R human adrenocortical cells.
Proteomic profiles in hyperandrogenic syndromes.
Pseudogene/functional gene ratio in late-onset 21-hydroxylase-deficient adrenal hyperplasia.
Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia.
Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency.
Puberty and fertility in congenital adrenal hyperplasia.
Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.
Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.
Quality of life, social situation, and sexual satisfaction, in adult males with congenital adrenal hyperplasia.
Quantitation of 17-OH-progesterone (OHPG) for diagnosis of congenital adrenal hyperplasia (CAH).
Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones.
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Radioimmunoassay for 21-deoxycortisol: clinical applications.
Radioimmunoassay of plasma 21-deoxycortisol.
Radioimmunoassay of urinary 21-deoxytetrahydroaldosterone in primary aldosteronism and 21-hydroxylase deficiency.
Randomised controlled trial of growth effect of hydrocortisone in congenital adrenal hyperplasia.
Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene.
Rapid detection of 21-hydroxylase deficiency mutations by allele-specific in vitro amplification and capillary zone electrophoresis.
Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots.
Rapid monitoring assay of congenital adrenal hyperplasia with microbore high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.
Rapid screening assay of congenital adrenal hyperplasia by measuring 17 alpha-hydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.
Rapid screening method for detecting mutations in the 21-hydroxylase gene.
Rapid screening method to detect mutations in CYP21, the gene for 21-hydroxylase.
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
Rapid single nucleotide polymorphism analysis by primer extension and capillary electrophoresis using polyvinyl pyrrolidone matrix.
Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review.
Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia.
Reassessment of predictive values of ACTH-stimulated serum 21-deoxycortisol and 17-hydroxyprogesterone to identify CYP21A2 heterozygote carriers and nonclassic subjects.
Recent advances in 21-hydroxylase deficiency.
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update.
Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital.
Recurrent hepatocellular carcinoma and non-classic adreno-genital syndrome.
Reduced bone mineral density and increased bone metabolism rate in young adult patients with 21-hydroxylase deficiency.
Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males with 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
Reduced need of glucocorticoid therapy in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency during pregnancy.
Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.
Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
Regulation of the mineralocorticoid hormones in adrenocortical disorders with adrenocorticotropin excess.
Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth.
Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Reproductive and Perinatal Outcomes in Women with Congenital Adrenal Hyperplasia: A Population-based Cohort Study.
Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency.
Response to Letter to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline".
Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice.
Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia.
Restriction fragment length polymorphism study of families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Taiwan.
Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo.
Results of the ACTH stimulation test in hirsute women.
Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: application in congenital adrenal hyperplasia.
Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia.
Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency.
Reversible male infertility due to congenital adrenal hyperplasia.
Reversible male infertility in late onset congenital adrenal hyperplasia.
Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Review: fetal programming of polycystic ovary syndrome by androgen excess: evidence from experimental, clinical, and genetic association studies.
Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.
RFLPs of 21-hydroxylase and C4 genes: application to pedigree analysis on 21-hydroxylase deficiency.
Risk factors for hospitalization of children with congenital adrenal hyperplasia.
Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche.
Salivary and plasma androstenedione and 17-hydroxyprogesterone levels in congenital adrenal hyperplasia.
Salivary morning androstenedione and 17?-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia.
Salivary steroid assays - research or routine?
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
Salt-losing form of 21-hydroxylase deficiency accompanied by hypopituitarism in a boy.
Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers.
Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.
Sample-multiplexing by derivatization using multiple analogous reagents for enhancing throughput in LC/ESI-MS/MS assay of steroids: Plasma 17?-hydroxyprogesterone as an example.
Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
Screening for neonatal endocrinopathies: rationale, methods and results.
Screening for non-classic 21-hydroxylase deficiency in an HLA-B14 positive population.
Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test.
Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol.
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study.
Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia.
Sequential use of hydrocortisone and dexamethasone in prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Serum 17-hydroxypregnenolone and 17-hydroxypregnenolone sulfate concentrations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.
Serum 3 alpha-androstanediol glucuronide measurements in children with congenital adrenal hyperplasia.
Serum 3 alpha-androstanediol glucuronide measurements in sexually mature women with congenital adrenal hyperplasia during therapy.
Serum androgen concentrations in neonates and young infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?
Serum cortisol in adrenal hirsutism as estimated by five different methods.
Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment.
Serum levels of 5-androstene-3 beta,17 beta-diol sulphate, 5 alpha-androstane-3 alpha, 17beta-diol sulphate and glucuronide, in late onset 21-hydroxylase deficiency.
Serum steroid hormonal profiles by reversed-phase liquid chromatography in patients with 17-hydroxylase deficiency and in an affected family.
Serum total testosterone levels in a patient with late onset 21-hydroxylase deficiency and a twin gestation.
Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life.
Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum.
Severe virilization in a girl with a steroid cell tumor of the ovary.
Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency.
Sexual dimorphism in the synchrony of joint growth hormone and cortisol dynamics in children with classic 21-hydroxylase deficiency.
Sexual function and fertility in adult females and males with congenital adrenal hyperplasia.
Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review.
Sexual well-being in adult male patients with congenital adrenal hyperplasia.
Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency.
Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?
Siblings of 21-hydroxylase deficiency (non-salt-losing) with aldosterone hypersecretion.
Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.
Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women With 21-Hydroxylase Deficiency.
Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency.
Sonography in prenatal diagnosis of congenital adrenal hyperplasia.
Source localization of androgen excess in adolescent girls.
Spatial function in adolescents and young adults with congenital adrenal hyperplasia: Clinical phenotype and implications for the androgen hypothesis.
Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.
Spontaneous cortisol and growth hormone secretion interactions in patients with nonclassic 21-hydroxylase deficiency (NCCAH) and control children.
Spontaneous thyrotropin and cortisol secretion interactions in patients with nonclassical 21-hydroxylase deficiency and control children.
Steroid 17-hydroxyprogesterone in hair is a potential long-term biomarker of androgen control in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.
Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
Steroid 21-hydroxylase deficiency and the major histocompatibility complex.
Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Steroid 21-hydroxylase deficiency in mice.
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.
Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.
Steroid 21-hydroxylase expression and activity in human lymphocytes.
STEROID 21-HYDROXYLASE GENE MUTATIONAL SPECTRUM IN 454 ARGENTINEAN PATIENTS: GENOTYPE-PHENOTYPE CORRELATION IN A LARGE COHORT OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA.
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms.
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
Steroid cell tumor of the ovary in a child.
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
Steroid excretion patterns in urine from two boys in the neonatal period with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
Steroid responses to ACTH in women with polycystic ovaries.
Steroid spectrum in human urine as revealed by gas chromatography. IV. Changes in the exception of 16-oxygenated neutral steroids by children with 21-hydroxylase deficiency during different stages of development.
Steroidogenic enzyme activities, morphology, and receptor studies of a testicular adrenal rest in a patient with congenital adrenal hyperplasia.
Steroidogenic enzyme expression within the adrenal cortex during early human gestation.
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 2. Characterization, using GC-MS and GC-MS/MS, of pregnanes and pregnenes with an oxo- group on the A- or B-ring.
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 3. Characterization, using GC-MS and GC-MS/MS, of androstanes and androstenes.
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 4. Characterization, using GC-MS and GC-MS/MS, of 11oxo-pregnanes and 11oxo-pregnenes.
Steroids excreted in urine by neonates with 21-hydroxylase deficiency: Characterization, using GC-MS and GC-MS/MS, of the D-ring and side chain structure of pregnanes and pregnenes.
Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives.
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.
Studies of the C-21 and C-19 steroids and HLA genotyping in siblings and parents of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance.
Study of three patients with congenital adrenal hyperplasia treated by bilateral adrenalectomy.
Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency.
Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in sweden.
Substitution therapy in adult patients with congenital adrenal hyperplasia.
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
Success of glucocorticoid replacement therapy on fertility in two adult males with 21-CAH homozygote classic form.
Successful pregnancy after the treatment of primary amenorrhea in a patient with non-classical congenital adrenal hyperplasia.
Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Successful prenatal treatment of congenital adrenal hyperplasia resulting from the 21-hydroxylase deficiency: is prenatal diagnosis in a mother at risk essential?
Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: case report.
Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency.
Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans.
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
Synthesis and application of circularizable ligation probes.
TaqI HLA-B and -DRB RFLP analysis can predict disease in siblings of affected children with 21-hydroxylase deficiency.
Temporal and individual variations in the dose of glucocorticoid used for the treatment of salt-losing congenital virilizing adrenal hyperplasia due to 21-hydroxylase deficiency.
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
Testicular adrenal rest "tumor" or Leydig cell tumor? A report of a challenging case with literature review.
Testicular adrenal rest hyperplasia due to 21-hydroxylase deficiency: a case report.
Testicular Adrenal Rest Tumor In Brothers With Novel Mutation In 3-Beta Hydroxysteroid Dehydrogenase -2 Gene.
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
Testicular adrenal rest tumor screening and fertility counseling among males with congenital adrenal hyperplasia.
Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.
Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.
Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up.
Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.
Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies).
Testicular adrenal rest tumours in young adult males with congenital adrenal hyperplasia: prevalence and impact on testicular function.
Testicular adrenal rests: evidence for luteinizing hormone receptors and for distinct types of testicular nodules differing for their autonomization.
Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: detection by ultrasonography.
Testicular adrenal-like tissue in a patient with 17 alpha-hydroxylase deficiency.
Testicular enlargement in patients with 11-hydroxylase deficiency.
Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins.
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue.
Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome.
Testosterone-secreting virilizing adrenal adenoma with human chorionic gonadotrophin receptors and 21-hydroxylase deficiency.
The 11?-hydroxysteroid dehydrogenase isoforms: pivotal catalytic activities yield potent C11-oxy C19 steroids with 11?HSD2 favouring 11-ketotestosterone, 11-ketoandrostenedione and 11-ketoprogesterone biosynthesis.
The activities of 5?-reductase and 17,20-lyase determine the direction through androgen synthesis pathways in patients with 21-hydroxylase deficiency.
The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás.
The Application of Principal Component Analysis on Clinical and Biochemical Parameters Exemplified in Children With Congenital Adrenal Hyperplasia.
The attenuated form of congenital adrenal hyperplasia as an allelic form of 21-hydroxylase deficiency.
The balance of cortisol-cortisone interconversion is shifted towards cortisol in neonates with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The biochemical basis for genotyping 21-hydroxylase deficiency.
The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.
The Classic and Nonclassic Congenital Adrenal Hyperplasias.
The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.
The coexistence of IgA deficiency and 21-hydroxylase deficiency marked by specific MHC supratypes.
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
The complications of surgery for intersex: changing patterns over two decades.
The constant plasma 18-hydroxycorticosterone to aldosterone ratio: an expression of the efficacy of corticosterone methyloxidase type II activity in disorders with variable aldosterone production.
The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization.
The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.
The diagnosis of 21-hydroxylase deficiency in a prematurely born infant on the basis of the urinary steroid excretion pattern.
The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.
The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.
The early recognition of the 21-hydroxylase deficiency variety of congenital adrenal hyperplasia.
The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.
The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia.
The endocrine pattern of late onset adrenal hyperplasia (21-hydroxylase deficiency).
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients.
The frequency of 21-alpha hydroxylase enzyme deficiency and related sex hormones in Iraqi healthy male subjects versus patients with acne vulgaris.
The Frequency of CYP 21 Gene Mutations in Turkish Women with Hyperandrogenism.
The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
The HLA associations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a Yugoslav population.
The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region.
The hypothalamic-pituitary-adrenal axis in partial (late-onset) 21-hydroxylase deficiency.
The immunological detection of a 21-OH deficiency mutation HLA supratype.
The impact of 21-hydroxylase deficiency on cardiac repolarization changes in children with 21-hydroxylasedeficient congenital adrenal hyperplasia.
The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family.
The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.
The in vitro metabolism of 11?-hydroxyprogesterone and 11-ketoprogesterone to 11-ketodihydrotestosterone in the backdoor pathway.
The incidence of congenital adrenal hyperplasia in Switzerland--a survey of patients born in 1960 to 1974.
The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women.
The incidence of non-classical 21-hydroxylase deficiency in hirsute adolescent girls.
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
The influence of prenatal dexamethasone treatment on urinary excretion of adrenocortical steroids in newborns.
The interaction of plasma renin activity and plasma atrial natriuretic peptide in 21-hydroxylase deficiency patients.
The investigation of adrenocortical disorders.
The management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The masculinized female and investigation of abnormal sexual development.
The measurement of 11 beta-hydroxy-4-pregnene-3,20-dione (21-deoxycorticosterone) by radioimmunoassay in human plasma.
The midgrowth spurt in healthy children is not caused by adrenarche.
The molecular genetics of 21-hydroxylase deficiency.
The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.
The occurrence of neonatal acute respiratory disorders in 21-hydroxylase deficiency.
The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
The pitfalls associated with urinary steroid metabolite ratios in children undergoing investigations for suspected disorders of steroid synthesis.
The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene.
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations.
The prevalence of 21-hydroxylase deficiency in adrenal incidentalomas - hormonal and mutation screening.
The prevalence of 5 alpha-reductase deficiency in children with ambiguous genitalia in the Dominican Republic.
The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both.
The prevalence of hyperandrogenism in 109 consecutive female patients with diffuse alopecia.
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in Turkish woman with hirsutism and polycystic ovary.
The progression of salt wasting and the body weight change during the first two weeks of life in classical 21-hydroxylase deficiency patients.
The Range of 2.2-3.3 mg/gCr of Pregnanetriol in the First Morning Urine Sample as an Index of Optimal Control in CYP21 Deficiency.
The ratio of androstenedione:11 beta-hydroxyandrostenedione is an important marker of adrenal androgen excess in women.
The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The Recalled Childhood Gender Questionnaire-Revised: a psychometric analysis in a sample of women with congenital adrenal hyperplasia.
The relationship of carotid intima-media thickness with anthropometric and metabolic parameters in patients with classic congenital adrenal hyperplasia
The response of several adrenocortical steroids to the administration of ACTH in hirsute women.
The Rise, Fall, and Resurrection of 11-Oxygenated Androgens in Human Physiology and Disease.
The risk of functional ovarian hyperandrogenism and polycystic ovary syndrome in patients with hyperandrogenism.
The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience.
The role of adrenocorticotropin testing in evaluating girls with premature adrenarche and hirsutism/oligomenorrhea.
The role of heterozygosity for CYP21 in the polycystic ovary syndrome.
The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.
The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia.
The steroid response to controlled adrenal stimulation in congenital adrenal hyperplasia.
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
The urinary steroidome of treated children with classic 21-hydroxylase deficiency.
The use of gamma interferon to increase HLA antigen expression on cultured amniotic cells used for the prenatal diagnosis of 21-hydroxylase deficiency.
Theca function in polycystic ovaries of a patient with virilizing congenital adrenal hyperplasia.
Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype.
Therapy monitoring in congenital adrenal hyperplasia by dried blood samples.
Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan.
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Tildacerfont in Adults with Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.
Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency.
Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland.
Transient central precocious puberty in non-classic 21-hydroxylase deficiency.
Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia.
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women.
Treatment and disease effects on short-term growth and adult height in children and adolescents with 21-hydroxylase deficiency.
Treatment and outcome of congenital adrenal hyperplasia: 21-hydroxylase deficiency.
Treatment of adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a clinical practice audit.
Treatment with dexamethasone of androgen excess in adolescent patients.
Treatment with flutamide decreases cortisol clearance: implications for therapy in congenital adrenal hyperplasia.
Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia.
Tumors of the adrenogenital syndrome: an aggressive conservative approach.
Two adults with adrenal myelolipoma and 21-hydroxylase deficiency.
Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?
Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood.
Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.
Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns.
Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11?-Hydroxyandrosterone.
Typical characteristics of children with congenital adrenal hyperplasia due to 11?-hydroxylase deficiency: a single-centre experience and review of the literature.
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
Unilateral testicular enlargement resulting from inapparent 21-hydroxylase deficiency.
Uniparental disomy as a cause of pediatric endocrine disorders.
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Update on adrenal steroid hormone biosynthesis and clinical implications.
Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Urinary 17 alpha-hydroxyprogesterone in management of 21-hydroxylase deficiency.
Urinary 6-sulfatoxymelatonin excretion in hyperandrogenic women: the effect of cyproterone acetate-ethinyl estradiol treatment.
Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Urinary excretion of aldosterone metabolite Kelly-M1 in patients with adrenal dysfunction.
Urinary GC-MS steroid metabotyping in treated children with congenital adrenal hyperplasia.
Urinary pregnanetriol-3-glucuronide in children: age-related change and application to the management of 21-hydroxylase deficiency.
Urinary steroidomic profiles by LC-MS/MS to monitor classic 21-Hydroxylase deficiency.
Use of an aromatase inhibitor in children with congenital adrenal hyperplasia: Impact of anastrozole on bone mineral density and visceral adipose tissue.
Use of Glucocorticoids in Pregnancy.
Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.
Use of PET/CT with Cosyntropin Stimulation to Identify and Localize Adrenal Rest Tissue following Adrenalectomy in a Woman with Congenital Adrenal Hyperplasia.
Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Usefulness of an ACTH test in the diagnosis of nonclassical 21-hydroxylase deficiency among children presenting with premature pubarche.
Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population.
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
Vaginoplasty using the inner surface or mucosa of the prepuce in children with congenital adrenal hyperplasia.
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).
Value of direct measurement of active renin concentrations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency.
Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.
Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
Virilising 21-hydroxylase deficiency: timing of newborn screening and confirmatory tests can be crucial.
Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma.
Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.
Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine.
White Matter Microstructural Differences in Youth with Classical Congenital Adrenal Hyperplasia.
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.
Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty?
Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary.
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
X-chromatin in congenital virilizing adrenal hyperplasia.
Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and nonclassic patients and heterozygote carriers.
[21-deoxycortisol. A new marker of virilizing adrenal hyperplasia caused by 21-hydroxylase deficiency]
[21-Hydroxylase deficiency (classical type)]
[21-Hydroxylase deficiency (nonclassical type)]
[21-hydroxylase deficiency associated with adrenal tumor: case report of two brothers]
[21-hydroxylase deficiency detected late in a man with chronic asthenia]
[21-Hydroxylase deficiency. Clinical expression of heterozygote carriers in a family]
[21-hydroxylase deficiency. Review of the biochemical characteristics and their diagnostic implications]
[21-hydroxylase deficiency: a case in a newborn revealing a maternal forme tardive]
[3 beta-hydroxysteroid dehydrogenase deficiency and 21-hydroxylase deficiency in hirsutism]
[A case of 21-hydroxylase deficiency and Bartter's syndrome associated with a balanced 6-9 translocation]
[A case of a simple virilizing form of 21-hydroxylase deficiency with schizophrenic symptoms, marked pigmentation and highly elevated plasma deoxycorticosterone]
[A case of adrenal myelolipoma associated with adrenogenital syndrome]
[A case of bilateral testicular tumors with congenital adrenal hyperplasia]
[A case of congenital adrenogenital syndrome]
[A case of post-pubertal form of 21-hydroxylase deficiency and polycystic ovaries]
[A case of virilizing adrenal cortical adenoma whose steroid profile evokes a partial 21-hydroxylase deficiency (author's transl)]
[A case report: reversible male infertility due to congenital adrenal hyperplasia]
[A clinical study of congenital adrenal hyperplasia]
[A discuss on risk factors of final height in 21-hydroxylase deficiency patients]
[A genetic and hormonal study of 5 patients with the nonclassical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[A method for the quantitative analysis of steroid hormones by HPLC/RIA]
[A simple method for the estimation of a urinary steroids profile using glass capillary gas chromatography with a solventless injection system]
[Acne and hormones]
[Adrenal hyperplasia as a result of 21-hydroxylase deficiency: prenatal diagnosis and treatment. Neonatal diagnosis]
[Adrenogenital syndrome with 21-hydroxylase deficiency]
[Adrenogenital syndrome--molecular biology and prenatal diagnosis]
[Adrenogenital syndrome. II. Molecular biology]
[Aggravation of salt loss due to hydrocortisone in the first days of treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Aldosterone metabolism in dizygotic twins with simple masculinizing-type adrenal gland hyperplasia due to 21-hydroxylase deficiency]
[An analysis and identification of urinary steroids in normal people and patients with 21-hydroxylase deficiency and urinary excretion patterns]
[Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency].
[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].
[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].
[Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency].
[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening].
[Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.]
[Anesthetic management of a patient with 21-hydroxylase deficiency]
[Antenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Association of congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency and bilateral testicular tumor]
[Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]
[Balanced translocation 8:10 and adrenogenital syndrome. Family study (author's transl)]
[Bilateral testicular masses in the scope of adrenogenital syndrome]
[Biochemical markers of congenital adrenal hyperplasia and impaired steroidogenesis].
[Body composition in females with 21-hydroxylase deficiency: comparison of anthropometric methods and bioelectric impedance in relation to a control group].
[Case of salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency and a short stature caused by early closure of epiphyseal lines in spite of steroid replacement therapy]
[Characterization of new splicing mutation in steroid 21-hydroxylase gene].
[Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
[Characterization of steroid 21-hydroxylase gene mutations in a oligosymptomatic form of congenital adrenal hyperplasia: family study]
[Chronic suicidality in depression due to untreated adrenogenital syndrome.]
[Class I HLA antigens in children from families with congenital adrenal hyperplasia]
[Classic 21-hydroxylase deficiency]
[Classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Genetic considerations in light of personal studies]
[Clinical characteristics of 21 infertile women with non-classic 21-hydroxylase deficiency].
[Clinical characteristics of testicular adrenal rest tumor and factors associated with its occurrence in 21-hydroxylase deficiency patients].
[Clinical features and diagnosis of mild 3-beta-hydroxysteroid dehydrogenase deficiency in men]
[Clinical features and genetic characteristics of 33 patients with simple virilizing form of 21-hydroxylase deficiency].
[Clinical features and outcomes of congenital adrenal hyperplasia with adenomatoid adrenal gland].
[Clinical polymorphism of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and HLA phenotype]
[Clinical report of testicular hypoplasia combined with 21-hydroxylase deficiency].
[Clinical significance of plasma renin, testosterone, 17-alpha-hydroxyprogesterone and ACTH activities in the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A review of 31 cases]
[Combined treatment of pseudohermaphroditism]
[Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Congenital adrenal hyperplasia and growth hormone deficiency. Special care in transition to adulthood]
[Congenital adrenal hyperplasia and testicular hypertrophy]
[Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency]
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: final height in 27 patients with the classical form]
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation].
[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency]
[Congenital adrenal hyperplasia in the adult women: management of old and new challenges].
[Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis.]
[Congenital adrenal hyperplasia salt-wasting form in males during the neonatal period. Can we anticipate to metabolic emergency?]
[Congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency]
[Congenital adrenal hyperplasia. Presentation of a case and review of the literature]
[Congenital adrenal hyperplasia: clinical aspects and neonatal screening]
[Congenital adrenal hyperplasia]
[Congenital adrenogenital syndrome and virilizing adrenocortical tumor in prepuberal females. Problems of diagnosis and therapy in 2 cases of virilization]
[Congenital adrenogenital syndrome due to 21-hydroxylase deficiency. Pathogenesis, clinical picture, and deliberations over better therapy]
[Congenital adrenogenital syndrome with unusually light 21-hydroxylase deficiency]
[Congenital virilization in a newborn girl of a mother with adrenogenital syndrome due to 21-hydroxylase deficiency]
[Connection between congenital adrenal hyperplasia due to 21-hydroxylase deficiency and the HLA genotype]
[Contemporary diagnosis and therapy in women with congenital adrenal hyperplasia].
[Contribution of genetics and molecular biology to the understanding of 21-hydroxylase deficiency]
[Corticoadrenal congenital hyperplasia with loss of salts due to 21-hydroxylase deficiency. Presentation of a personal observation]
[Corticosteroid treatment regimes and growth hormone secretion in congenital adrenogenital syndrome]
[Current concepts in the treatment of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Current data on the molecular biology of 21-hydroxylase deficiency. Diagnostic applications]
[CYP21 gene point mutations study in 21-hydroxylase deficiency patients]
[Defects of adrenal steroidogenesis in patients with hirsutism]
[Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].
[Detection of heterozygosity in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the general population]
[Detection of steroid 21-hydroxylase gene variation among normal Chinese and patients with congenital adrenal hyperplasia]
[Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia].
[Determination of urinary 17 alpha-hydroxyprogesterone excretion using ELISA--evaluation of normal subjects and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].
[Diagnosis and course control of the adrenogenital syndrome of the 21-hydroxylase deficiency type using radioimmunologic demonstration of 17-alpha-hydroxyprogesterone]
[Diagnosis and management of amenorrhea in adolescent girls].
[Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase]
[Diagnosis of late onset congenital adrenal hyperplasia]
[Diagnosis of the heterozygote carrier state in 21-hydroxylase deficiency using steroids]
[Diagnostic value of multiplex ligation dependent probe amplification combined with Sanger sequencing in 21-hydroxylase deficiency].
[Efficacy of letrozole in treatment of children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency].
[Electroencephalographic changes in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation].
[Experiences with specific screening for early detection of congenital adrenogenital syndrome with 21-hydroxylase defect]
[Expression of the human steroid 21-hydroxylase gene and its mutant variant C169R in insect cells and functional analysis of expression products]
[Features of adrenal cortex function in heterozygous carriers of 21-hydroxylase deficiency]
[Female pseudohermaphroditism in congenital adrenogenital syndrome as an incidental intraoperative finding in a 68 year old patient]
[Female pseudohermaphroditism]
[Final height in 69 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]
[Gas chromatography-mass spectrometry determination of plasma 5 alpha-androstane-3 alpha,17 beta-diol and 5 alpha-androstane-3 alpha,17 beta-diol glucuronide in children with premature and normal puberty ]
[Gene heterogeneity in adrenal 21-hydroxylase]
[Genetic aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Genetic counseling and prenatal diagnosis of adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
[Genetics of 21-hydroxylase deficiency]
[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].
[Giant bilateral adrenal myelolipoma associated with congenital adrenal hyperplasia.]
[Growth and adult height in patients with congenital adrenal hyperplasia]
[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.]
[Hirsutism secondary to congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency of late onset. A clinical case]
[Hirsutism. Two familial cases of 21-hydroxylase deficiency]
[Hirsutism: differential diagnosis]
[HLA and congenital genital adrenal syndrome caused by 21-hydroxylase deficiency]
[HLA antigens and different clinical forms of 21-hydroxylase deficiency in the French population]
[HLA haplotypes in families of children with congenital adrenal hyperplasia]
[Hormonal profile and HLA typing of adult subjects from 7 families with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone]
[Late (non-classic) adrenal hyperplasia]
[Late diagnoses of 21-hydroxylase deficiencies in children (after the age of 3 years]
[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].
[Linkage analysis between HLA and GLOI with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Linkage between congenital adrenal hyperplasia with 21-hydroxylase deficiency and HLA histocompatibility groups]
[Linkage between the gene responsible for adrenal hyperplasia caused by 21-hydroxylase deficiency and chromosome-6 short-arm markers]
[Management of congenital adrenal hyperplasia]
[Measurement of 17 OH progesterone in blood in Chilean newborns: antecedents for implementing a grogram for the neonatal detection of congenital adrenal hyperplasia]
[Medroxyprogesterone acetate. Contributive treatment in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in children]
[Micro-filter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay. Application for diagnosis of 21-hydroxylase deficiency (author's transl)]
[Microsporum canis mycetoma of the scalp]
[Modern methods in the diagnosis of hyperandrogenic dysfunction due to adrenal 21-hydroxylase deficiency]
[Molecular analysis of 21-hydroxylase gene of simple-virilizing 21-hydroxylase deficiency]
[Molecular and clinical study on homozygous or heterozygous large deletion of CYP21A2 gene in 21-OHD patients].
[Molecular basis of steroid 21-hydroxylase deficiency]
[Molecular biology of incidentally diagnosed adrenal gland space-occupying lesion]
[Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency]
[Molecular genetic study of 21-hydroxylase deficiency gene conversion as a molecular mechanism of monogenic disorder]
[Molecular genetics of 21-hydroxylase deficiency in congenital adrenal hyperplasia]
[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation]
[Mutation analysis in families with 21-hydroxylase deficiency]
[Mutations in 21-hydroxylase gene caused by gene conversion-like events]
[Neonatal mass-screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. I. Microfilter paper methods for radioimmunoassay of 17 alpha-hydroxyprogesterone]
[Neonatal mass-screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. II. A pilot neonatal mass-screening study in the west of Shizuoka Prefecture, Japan]
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1. Enzyme immunoassay of dried blood 17 alpha-hydroxyprogesterone and its application to neonatal screening for congenital adrenal hyperplasia]
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 2. Analysis of steroids with high-performance liquid chromatography for diagnosis of congenital adrenal hyperplasia]
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 3. An enzyme-linked immunosorbent assay for dried blood 17 alpha-hydroxyprogesterone]
[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 4. Development of enzyme-linked immunosorbent assay for dried blood cortisol and its application to neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Neonatal screening for congenital adrenal hyperplasia in Shanghai areas]
[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996]
[Neonatal screening of congenital hyperplasia of the adrenal glands caused by 21-hydroxylase deficiency. Realities and perspectives]
[Newborn infants of mothers with endocrinopathies]
[Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].
[Nodular adrenomegalies in congenital adrenal hyperplasia in adults. Implications]
[Non-classical 21-hydroxylase deficiency: clinico-hormonal discrepancies and intrafamilial phenotypic variability]
[Nonclassic 21-hydroxylase deficiency]
[Nonclassic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency]
[Partial 21-hydroxylase deficiency: study of 5 cases]
[Partial deficiency in 21-hydroxylase in certain forms of hirsutism]
[Paucisymptomatic partial 21-hydroxylase deficiency (hirsutism)]
[Polycystic ovaries in 2001: physiology and treatment]
[Possibility of progesterone as the diagnostic biomarker of 21-hydroxylase deficiency].
[Pregnancy outcomes of eight pregnant women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
[Pregnantriolon excretion after ACTH-stimulation in possible heterocygotes of 21-hydroxylase deficiency (author's transl)]
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings]
[Prenatal dexamethasone treatment of 21-hydroxylase deficiency]
[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency. Position of the Pediatric Endocrinology Study Group of the German Society of Pediatrics and the Section of Pediatric Endocrinology of the German Society of Endocrinology]
[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency]
[Prenatal diagnosis and treatment of adrenogenital syndrome. Prevent virilization of female fetuses]
[Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
[Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 9 treated pregnancies]
[Present state of diagnosis and treatment of the adrenogenital syndrome (author's transl)]
[Prevalence and related factors of dyslipidemia in patients with 21-hydroxylase deficiency].
[Prevention of sexual ambiguity in children with 21-hydroxylase deficiency by treatment in utero]
[Problems posed by the association of hemophilia A and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency]
[Pubic hair in children and late onset congenital adrenal hyperplasia]
[Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report].
[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
[Reevaluation of recalled infants by neonatal mass screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Diagnostic value of pregnanetriolone in a single urine specimen using glass capillary gas chromatography]
[Renin-angiotensin and hypophyseo-adrenal systems in children suffering from congenital adrenocortical hyperplasia resulting from 21-hydroxylase deficiency]
[Research on hirsutism. Apropos of a case of partial 21-hydroxylase deficiency]
[Results of genitoplasty for virilized genitalia of 41 females with congenital adrenal hyperplasia]
[Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality]
[Screening for congenital adrenal hyperplasia in Hungary]
[Screening for congenital adrenal hyperplasia in pregnancy: results and perspectives].
[Screening for hereditary diseases. What other screening?]
[Short-term administration of dexamethasone in salt-losing 21-hydroxylase deficiency who showed sudden growth and pigmentation disorder under routine cortisol therapy]
[State of the renin-angiotensin system in children with different clinical variants of congenital adrenal cortex hyperplasia caused by 21-hydroxylase deficiency]
[Steroid 21-hydroxylase deficiencies and female infertility: pathophysiology and management].
[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].
[Strategies in screening of nonclassical forms of congenital adrenal hyperplasia caused by P450c21 deficiency in hyperandrogenic women]
[Study of renin activity and aldosterone secretion in 7 cases of adrenal hyperplasia due to 21-hydroxylase deficiency]
[Study of renin activity and aldosterone secretion in adrenal hyperplasia due to 21-hydroxylase deficiency]
[Study of the transmission of the 21-hydroxylase deficiency through the hormonal screening and the HLA-typing (author's transl)]
[Substitution hormonal therapy in congenital adrenocortical hyperplasia, caused by 21-hydroxylase deficiency (lecture)]
[Successful treatment and pregnancy in a women with the non-classic form of congenital adrenal hyperplasia]
[Surgical correction of genital virilization in girls with congenital adrenal hyperplasia]
[Technique of PCR-ACRS for the detection of CYP21 gene mutations]
[The alternative androgen synthesis pathway in humans].
[The effect of maternal dexamethasone treatment after the 12th week of pregnancy on fetal genital development in adrenogenital syndrome with 21-hydroxylase deficiency]
[The functional characteristics of the reproductive system in women who are heterozygous carriers of 21-hydroxylase deficiency]
[The nonclassical form of congenital adrenal cortical dysfunction in adolescent girls].
[The specific features of adrenal steroidogenesis in patients with congenital adrenal cortical dysfunction due to 21-hydroxylase deficiency].
[Therapeutic problems in the adrenogenital syndrome caused by salt-losing 21-hydroxylase deficiency. Appearance of signs of corticoid overdosage at normally used doses]
[TRANSURETHRAL URETEROLITHOTRIPSY FOR UPPER URINARY TRACT STONE IN SMALL CHILDREN WEIGHNING AROUND 10KG].
[Treatment of adrenal gland hyperplasia caused by 21-hydroxylase deficiency (apropos of 26 cases)]
[Treatment of adult men with congenital adrenal hyperplasia syndrome due to 21-hydroxylase deficiency]
[Treatment of male adrenogenital syndrome (report of 17 cases)]
[Unique steroid 21-hydroxylase gene CYP21A2 polymorphism in patients with hyperandrogenism signs].
[Value of 17-hydroxyprogesterone determination in exploration of adrenal cortex enzyme deficiencies]
[Value of the assay of plasma steroids in the control of congenital adrenal hyperplasia]
[Virilization caused by 21-hydroxylase deficiency and axillary sweat gland hyperplasia]
[Virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: early diagnosis and response to 2 treatment schedules]
[Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: Study of a new case.]
Testicular Neoplasms
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.
Bilateral testicular tumors in congenital adrenal hyperplasia.
Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia.
Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review.
Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies).
Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins.
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue.
Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.
[Association of congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency and bilateral testicular tumor]
Thyroid Diseases
Autoantibodies against glutamic acid decarboxylase and 21-hydroxylase in Brazilian patients with type 1 diabetes or autoimmune thyroid diseases.
Autoantibody "subspecificity" in type 1 diabetes: risk for organ-specific autoimmunity clusters in distinct groups.
Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes.
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women.
Thyroiditis
Autoantibodies against glutamic acid decarboxylase and 21-hydroxylase in Brazilian patients with type 1 diabetes or autoimmune thyroid diseases.
First proof of association between autoimmune polyglandular syndrome and multiple endocrine neoplasia in humans.
Tremor
Human CYP2D6 in the Brain Is Protective Against Harmine-Induced Neurotoxicity: Evidence from Humanized CYP2D6 Transgenic Mice.
Tuberculosis
Addison Disease: The First Presentation of the Condition May be at Autopsy.
Turner Syndrome
21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I.
21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity.
Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families.
Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome.
Disorders of sex development and female reproductive capacity: A literature review.
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome.
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review.
[Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report].
[Turner syndrome caused by deletion of the long arm of the X chromosome associated with adrenogenital syndrome caused by partial deficiency of 21-hydroxylase]
unspecific monooxygenase deficiency
The CYP2D gene subfamily: analysis of the molecular basis of the debrisoquine 4-hydroxylase deficiency in DA rats.
Urinary Tract Infections
A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.
Uterine Hemorrhage
Menstrual bleeding in a female infant with congenital adrenal hyperplasia: altered maturation of the hypothalamic-pituitary-ovarian axis.
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman.
Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
Vaccinia
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Ventricular Dysfunction, Left
Assessment of early atherosclerosis and left ventricular dysfunction in children with 21-hydroxylase deficiency.
von Hippel-Lindau Disease
[Methods for the analysis of large gene deletions and their application in some hereditary diseases]
Wasting Syndrome
HLA class I-, complement C4- and 21-hydroxylase probes in the genetic analysis of 21-hydroxylase deficiency.
[Salt wasting syndrome caused by congenital, insufficient synthesis or aldosterone function--etiology, diagnosis and management]