“…Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by impairment at one of the steps of cortisol biosynthesis in the adrenal cortex ( 2 ). CAH caused by 3β-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance, with an estimated overall incidence of less than 1/1 000 000 ( 3 ). However, the prevalence may be substantially higher in inbred populations.…”