ea0078p35 | Gonadal, DSD and Reproduction | BSPED2021
Versha Rani Rai Dr
, Noor Ibrahim Mohsina
, Raza Jamal
, Laghari Taj Muhammad
, Khoso Zubair
, Riaz Maira
Background and Purpose: AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in NROB1 gene. It traditionally causes hypogonadotropic hypogonadism. Rare cases of central precocious puberty due to NROB1 mutation has been reported so far. We present two interesting cases of NROB1 mutation from a same family with different presentations. This is first case report of NROB1 mutation from Pakistan. Case Report: I...