ea0070aep8 | Adrenal and Cardiovascular Endocrinology | ECE2020
, Sil Paul Pallabi
, Haslbeck Martin
, Huebner Angela
, Reisch Nicole
Congenital adrenal hyperplasia (CAH) summarizes a group of genetic disorders of enzymes involved in cortisol biosynthesis. The most common causes detrimental mutations in the steroidogenic cytochrome P450 enzyme 21-hydroxylase (CYP21A2). Patients are dependent on a lifelong oral cortisol replacement therapy to ensure survival but quality of life is often reduced and co-morbidities are substantially increased. Also, the administered supraphysiological glucocorticoid dosescannot...