Rare case series of congenital adrenal insufficiency in two brothers with NROB1 mutation, presenting with dichotomous pubertal presentation

Abstract

Congenital Adrenal Hypoplasia (AHC) first described in 1948, characterized by adrenal insufficiency, and hypo-gonadotropic hypogonadism. X linked AHC mainly affects males, it occur mainly due to mutation in NR0B1 gene. In this report, we present two cases of NR0B1 mutation from same family with dichotomous pubertal presentation. An infant diagnosed and being managed as case of adrenal insufficiency, developed precocious puberty at the age of 11 months. His work-up showed increased LH, FSH and Testosterone. Genetic Analysis revealed NR0B1 mutation. He was managed with Gn RH agonist and steroid replacement. His brother 15 years old, treated as primary adrenal insufficiency, presented with arrested puberty, his genetic analysis also showed NR0B1 mutation. Keywords: AHC; adrenal hypoplasia; precocious puberty; hypogonadotropic; hypogonadism.