ea0093oc1 | Oral communication 1: Adrenal Diseases | EYES2023
Thirumalasetty Shamini Ramkumar
, Schubert Tina
, Naumann Ronald
, Reichardt Ilka
, Rohm Marie-Luise
, Landgraf Dana
, Peitzsch Mirko
, Sarov Mihail
, Reisch Nicole
, Huebner Angela
, Koehler Katrin
Background: Congenital Adrenal Hyperplasia (CAH) is a group of inherited disorders affecting adrenal steroidogenesis. The main form, 21-hydroxylase deficiency (21-OHD), results from mutations in the CYP21A2 gene. Patients experience hormone deficiencies, and excessive androgens which lead to various symptoms such as hypoglycemia, salt wasting, virilization, and early puberty. Therapy demands high glucocorticoid doses, causing significant side-effects. While new treatm...