ESPE Abstracts

Background: In the absence of a national screening program for congenital adrenal hyperplasia (CAH), children are often diagnosed late, when unwell with salt-wasting crisis or hypoglycemic symptoms. In 21-hydroxylase deficient CAH (21OHD-CAH), girls usually present with a disorder of sex development (DSD) and are thus diagnosed earlier than boys who present with salt-wasting.Aim: To investigate the global intelligence of...

Background: Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1 (gene encoding 11β-hydroxylase), is a rare autosomal recessive disorder due to an impairment of the last steroidogenesis step. Consequences are a decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors responsible of hyperandrogenism and hypertension. It is the second most frequent cause of CAH after 21-Hydroxylase de...