Searchable abstracts of presentations at key conferences in endocrinology

ea0078p35 | Gonadal, DSD and Reproduction | BSPED2021

Two brothers with rare NROB1 mutation presenting with dichotomus pubertal presentations

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...