hrp0084fc1.6 | Adrenal | ESPE2015
New Maria
, Tong Yu
, Jiang Peiyong
, Pina Christian
, Chan K C Allen
, Khattab Ahmed
, Liao Gary J W
, Yau Mabel
, Kim Se-Min
, Chiu Rossa W K
, Sun Li
, Zaidi Mone
, Lo Y M Dennis
Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...