Abstract
Abstract Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders causing impaired cortisol biosynthesis. The phenotypic expression of different CAH forms depends on the underlying enzyme deficiency. Steroid 21-hydroxylase (CYP21A2) and 11β-hydroxylase (CYP11B1) deficiencies only affect adrenal steroidogenesis, whereas 17α-hydroxylase (CYP17A1) and 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) also impair gonadal steroid biosynthesis. P450 oxidoreductase deficiency (PORD) presents with apparent combined CYP17A1-CYP21A2 deficiency. In contrast to other CAH forms, PORD also causes skeletal malformations and severe genital ambiguity in both sexes. Three further conditions have been traditionally classified as CAH. Steroidogenic acute regulatory protein (StAR) deficiency results in Lipoid CAH (CLAH), and has the unique feature of adrenal and gonadal lipid accumulation. P450 side-chain cleavage (CYP11A1) deficiency resembles the CLAH phenotype; however, patients have normal-sized or absent adrenals. Aldosterone synthase (CYP11B2) deficiency manifests with isolated aldosterone deficiency.
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