All issues > Volume 27(11); 1984

Case Report

J Korean Pediatr Soc. 1984;27(11):1118-1122. Published online November 30, 1984.

A Case of Congenital Adrenal Agenesis.

Kyeong Wha Lee¹, Hyung Jin Choi¹, Sang Man Shin¹, Sang Jhoo Lee¹, Dong Wha Lee²

¹Department of Pediatrics, SootichunhyaKg University, School of Medicine
²Department of Pathology, SootichunhyaKg University, School of Medicine

Abstract

Congenital adrenal agenesis or hypoplasia is very rare disorder which causes adrenal insufficiency. It is usually the result of an isolated defect of organogenesis. It may be sporadic, or it may express itself as an autosomal recessive or X-linked disorder within families. We experienced a baby who revealed hyperpigmentation, hypoglycemia, hyperkalemia and hyponatremia immediately after birth. Hormone study was compatible with primary adrenal insufficiency. Complete absence of adrenal glands were noted at autopsy. Therefore we report a cases of congenital adrenal agenesis which was verified at autopsy and a brief review of literature were presented.

Keywords :Congenital adrenal agenesis.