All issues > Volume 38(4); 1995

Case Report

J Korean Pediatr Soc. 1995;38(4):574-581. Published online April 15, 1995.

Two Siblings of Non Salt Losing Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Seung Cheol SC Lee¹, Byung Kyu BK Suh¹, Byung Churl BC Lee¹

¹Department of Pediatrics, Catholic University Medical College, Soul, Korea

Abstract

Congenital adrenal hyperplasia in caused by a defect in the biosynthesis of cortisol as a result of deviciency in one of the essential enzymes, most commonly 21-hydroxylase and is an autosomal recessive disease in close genetic linkage with HLA. The common clinical manifestations of congenital adrenal hyperplasia is progressive virilization in both sexes, abnormal external genitalia in the female, rapid growth with or without salt losing syndrome. We experienced tow female siblings aged 8 and 12 years, who had rapid growth without salt losing syndrome, ambiguous genitalia, virilizing symptoms and other typical laboratory findings such as 17-ketosteroid in 24 hour urine and normal plasma renin activities, Diagnosis was made by typical clinical manifestations, 46, XX in karyotype, and some hormonal study. After the operation of clitorial recession, they have been treated orally with cortisone acetate. The review of literature was made briefly.

Keywords :Adrenogenital syndrome, Congenital adrenal hyperplasia, 21-hydroxylase deviciency