Genetics of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a disorder that affects cortisol biosynthesis due to autosomal recessively inherited monogenic defects in the 5 enzymes involved in adrenal steroid synthesis pathway as described below. CAH 21OHD is the commonest form and accounts for more than 90% of cases. Genotyping can help understand the phenotype and prompt life-threatening adrenal crisis. Molecular characterization of CAH 21OHD is complex with highly variable genotype.