Adrenal Hypoplasia Congenita Presenting as Adrenal Crisis, Unconjugated Hyperbilirubinemia, and Hyperpigmentation

Abstract

Adrenal hypoplasia congenita is a relatively rare disorder characterized by atrophy or hypoplasia of the adrenal gland. It was first described by Sikl H in 1948 in 33-day-old infant. It is inherited as an autosomal recessive or X-linked disorder. It presents usually with adrenal insufficiency. In this article, we are presenting a case of congenital adrenal hypoplasia which presented with hypoglycemia, adrenal insufficiency, hyperbilirubinemia, and acquired hyperpigmentation in the neonatal period.