ea0090oc5.1 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023
Ramkumar Thirumalasetty Shamini
, Schubert Tina
, Naumann Ronald
, Reichardt Ilka
, Rohm Marie Luise
, Landgraf Dana
, Gembardt Florian
, Peitzsch Mirko
, Hartmann Michaela F
, Sarov Mihail
, Wudy Stefan A
, Reisch Nicole
, Huebner Angela
, Koehler Katrin
Congenital Adrenal hyperplasia (CAH) refers to a group of autosomal-recessive inherited disorders of impaired adrenal steroidogenesis. The most common form is 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene. Patients lack glucocorticoids and in some cases mineralocorticoids, and present with androgen excess causing hypoglycemia, live-threatening salt wasting, virilisation, and precocious puberty. Treatment includes the replacement of deficie...