impe0096s9.1 | Advances in Congenital Adrenal Dysfunction | IMPE2023
van der Grinten Hedi Claahsen
, Schroeder Mariska
Congenital adrenal hyperplasia (CAH) is a group of inherited conditions affecting the cortisol production in the adrenal cortex due to a defect in one of the enzymes involved in the cortisol synthesis. The most common enzymatic defect is 21 hydroxylase deficiency (21OHD) leading to a lack of cortisol and mostly also aldosterone and an overproduction of adrenal androgens due to chronically elevated ACTH production. Patients need lifelong glucocorticoid substitution to replace t...