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 treatment goals in 21-OHD are: (1) to replace insufficient hormones (glucocorticoids and mineralocorticoids, when needed) and (2) to suppress excessive production of adrenal androgens.

This session will discuss:: 1. the established and upcoming therapies for patients with classic and nonclassic CAH.2. the utility of traditional and novel biomarkers for monitoring disease control and guiding therapy for patients with classic and nonclassic CAH.