Congenital adrenal hyperplasia (CAH) is an inborn condition caused by a group of autosomal recessive disorders that disrupt cortisol biosynthesis, resulting in primary adrenal insufficiency.1 More than 95% of cases are caused by mutations in the gene encoding 21-hydroxylase, the enzyme that catalyzes the prefinal step of cortisol…
The New England Journal of Medicine: Search Results in Endocrinology
