Carriers of a Classic CYP21A2 Mutation Have Reduced Mortality: A Population-Based National Cohort Study

Context Congenital adrenal hyperplasia (CAH) is a common monogenic recessive disorder. It has been suggested that CYP21A2 deficiency is common because carriers may have a survival advantage, 1 in 15,000 in most populations. Carriers of CYP21A2 mutations typically do not have clinical symptoms but have a defined phenotype with a more prompt cortisol response to ACTH. Objective We investigated whether the mortality was lower, and determined the...