Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to measure 6 metabolic compounds of the adrenocorticosteroid pathway simultaneously on residual specimens from patients who had previously been previously diagnosed, on the basis of immunoassays, as having congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, 21-hydroxylase deficiency, or Addison disease (adrenal...

A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of 11 beta-hydroxylase deficiency that was originally misdiagnosed as 21-hydroxylase deficiency. Hyp...

Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is an autosomal recessive disease, which leads to cortisol and aldosterone deficiency and hyperandrogenism. Typical medical treatment includes oral glucocorticoid and mineralocorticoid administration to suppress adrenal androgens and to compensate for adrenal steroid deficiencies. However, some patients stopped taking medi...

Congenital adrenal hyperplasia is a disorder occurring in both sexes and is the commonest cause of ambiguous genitalia. It is a group of autosomal recessive disorders in which, on the basis of an enzyme defect the bulk of steroid hormone production by adrenal cortex shifts from corticosteroids to androgens. Autosomal recessive mutations in the CYP21, CYP17, CYP11B1 and 3betaHSD genes that encod...

This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in "The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort" (R. Khajuria, R. Walia, A. Bhansali, R. Prasad, 2017) [1]. This dataset features about the CAH patients in the cohort, their classification into subtypes and finally screening the exon...

background: congenital adrenal hyperplasia (cah, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. more than 95% of cases of cah are caused by 21-hydroxylase deficiency (21-ohd). females with severe, classic 21-ohd are exposed to excess androgens prenatally and are born with virilized external genitalia. most pati...

We report a case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency in a Chinese genotypic male patient. Despite the male genotype, normal female external genitalia were present and with the introduction of cyclical oestrogen therapy withdrawal bleeding occurred, confirming the presence of functional endometrial tissue. We believe this to be the first report of persistent ...