All issues > Volume 38(4); 1995

Case Report

J Korean Pediatr Soc. 1995;38(4):567-573. Published online April 15, 1995.

A Case of Congenital Lipoid Adrenal Hyperplasia

Hae Kyung HK Lee¹, Dong Hwan DH Lee¹, Sang Jhoo SJ Lee¹

¹Department of Pediatrics, Soonchunhyang University, College of Medicine, Seoul, Korea

Abstract

Congenital lipoid adrenal hyperplasia is the rarest type among salt losing types of congenital adrenal hyperplasia. The defect of this disorder is in the cholesterol side chain cleavage enzyme(P450SCC)which converts cholesterol to pregnenolone. We experienced a case of 20,22 desmolse deficiency in a 21-day old phenotypically female who was admitted to our hospital due to lethargy and dark skin pigmentation. The characteristic findings were decreased serum cortisol, aldosterone, testosterone, increased ACTH. The ACTH and hCG stimulation test were performed and there were no response. The sex chromosomal analysis showed made XY. One year later after hormone therapy, growth and development are normal.

Keywords :Congenital lipoid adrenal hyperplasia