All issues > Volume 28(1); 1985

Case Report

J Korean Pediatr Soc. 1985;28(1):78-84. Published online January 31, 1985.

Adrenaogenital Syndrome with Congenital Adrenal Hyperplasia.

Kyeong Rae Moon¹, Yeong Bong Park¹, Sang Gi Kim¹, Jin Heon Kim¹, Chang Soo Ra¹, Jae Hong Seo², Ho Won Hwang²

¹Department of Pediatrics,College of Medicine, Chosun University
²Department of Pathology,College of Medicine, Chosun University

Abstract

Adrenogenital syndrome is caused by a defect in biosynthesis of adrenal corticoids as a result of deficiency in one of the essential enzymes, most commonly 21-hydroxylase. About 50% of 21-hydroxylase deficiency have salt losing type as a result of aldosterone deficiency. We have experienced a casa of adrenogenital syndrome associated with congenital adrenal hyperplasia (salt losing form) in a 3 months old female infant with severe dehydration and malnutrition due to persistent vomiting and diarrhea since shortly after the birth. And the patient was expired at the age of 4 month. Serum electrolytes revealed hyponatremia and hyper kalemia. Urinary 17-ketosteroid level was markedly elevated and 17-OHCS level was slightly decreased. She was diagnosed as a salt losing form of adrenogenital syndrome. We reported, here, this case with autopsy findings and literatures were briefly reviewed.

Keywords :Adrenogenital syndrome;Salt losing form