Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is due to autosomal recessive genetic defects in enzymes required for cortisol synthesis. Defects in the gene encoding steroid 21-hydroxylase (CYP21A2) account for most CAH cases. In all cases of 21-OHD, obstructed cortisol synthesis prompts ACTH elevations, which, in turn, stimulate adrenal cortical growth and steroidogenic flux. The combination of ACTH elevation and 21-OHD favors the overproduction of adrenal androgens. The 2 main treatme...