Congenital adrenal hyperplasia: The importance of screening and clinical assessment

Abstract

Congenital adrenal hyperplasia (CAH) is caused by autosomal recessive gene mutations, encoding enzymes in the adrenal steroidogenesis pathway. 1 It has a world-wide incidence of 1:14,000 to 1:18,000, but is more common in genetically isolated groups with a smaller gene pool. 1,2 CAH is categorised depending on the enzyme affected, 95%due to a mutation in CYP21A1, which results in 21-hydroxylase deficiency (21OHD); an inability to synthesise cortisol and aldosterone causing diversion of steroid precursors, including