ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a relatively common monogenic recessive disorder with an incidence of 1/15 000 in most populations. It has been suggested that CYP21A2 deficiency is relatively common because it may confer a survival advantage to be a carrier. Carriers of CYP21A2 mutations typically do not have clinical symptoms but have a defined phenotype. The cortisol response to ACTH stimulation has been shown to be both...