A rare occurrence of central precocious puberty in adrenal hypoplasia congenita

Abstract

AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in the DAX1 gene. It traditionally causes hypogonadotropic hypogonadism. We present a boy with AHC presenting with primary adrenal insufficiency at age of 1 ½ months and developing central precocious puberty (CPP) at 7 months. Common perception with DAX1 mutation is hypogonadism. Therefore, precocious puberty in an infant with adrenal insufficiency and in whom CAH is ruled out may deter the physician from further investigating the aetiology of primary adrenal insufficiency. Knowledge of such an uncommon presentation may guide the physician to test for DAX1 gene. This also gives a better insight into our understanding of the DAX-1 gene.

Keywords

• central
• nuclear receptor dax-1
• precocious puberty
• x-linked adrenal hypoplasia congenita