All issues > Volume 26(6); 1983

Case Report

J Korean Pediatr Soc. 1983;26(6):589-592. Published online June 30, 1983.

A Case of Female Pseudohermaphroditism With Congenital Adrenal Hyperplasia.

Hyo Jung Kim¹, Hye Kyung Lee¹, Hyang Sook Kim¹, Soon Jai Lee¹, Sung Woo Shin¹

¹Department of Pediatrics, Han-Il Hospital, Seoul，Korea

Abstract

We experienced a case of female pseudohermaphroditism with congenital adrenal hyperplasia. The patient, a 10 day old female infant, was presented characteristic findings such as ambiguous sex and dehydration. The vaginogram revealed normal internal genital organs. The chromosome analysis was 46, XX. The electrolyte study showed hyponatremia and hyperkalemia. The 24 hours urinary 17-ketosteroid and 17-OHCS were 2.5 mg and 0.9 mg respectively, prior to treatment. Fluid therapy, hydrocortisone and salt were tried with improvement. The patient was considered to have 21-hydroxylation defect, “Salt-loser” from the clinical evidence. A brief review of related literatures was made.

Keywords :Congenital adrenal hyperplasia; Ambiguous external genitalia; Female pseudohermaphroditism.