ea0016p589 | Paediatric endocrinology | ECE2008
Fleischer Sandra
, Grosz Ute S
, Drexler Hjordis HS
, Wusthof Achim
, Schulte Heinrich M
Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases with increased adrenal androgens secretion from the adrenal cortex, characterized by simple virilizing and salt wasting forms. Deficiency of 21-hydroxylase, caused by mutations in the 21-hydroxylase gene (CYP21A2) is the most frequent CAH, accounting for more than 90 percent of CAH cases. Deficiency of 3 beta-Hydroxysteroid-Dehydrogenase Type II is caused by mutations in the <i...