All issues > Volume 37(10); 1994

Case Report

J Korean Pediatr Soc. 1994;37(10):1469-1473. Published online October 15, 1994.

Congenital Adrenal Hyperplasia with 21-hydroxylase Deficiencies in Twins

Young Don YD Kim¹, Jeong Hwa JH Choi¹, Jae Hong JH Park¹, Hee Ju HJ Park¹, Seong Suk SS Jeon²

¹Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea
²Department of Pediatrics, Ilsin Christain Hospital, Pusan, Korea

Abstract

Congenital adrenal hperplasia is inherited disorder of adrenal steroidogenesis. 21-hydroxylase deficiency is the most commone enzymatic defect and is divided into classic and late-onset or nonclassic forms. Both classic and non-classic 21-hydroxylase deficiencies are inherited in a recessive manner as allelic variants. But it is rare that happened in twin infants. Chief complaints of affected twins in our case were ambiguous genitalia, hyperpigmentation and dehydrations. They were revealed into hyponatremia, hyperkalemia and increased amount of serum progesterone, 17-hydroxyprogesterone and urinary 17-ketosteroid excretion and were administered with DOCA, 9α-fluorohydrocortisone, hydrocortisone to control the electrolyte imbalance. And now, both of them are going to normal ratio of weight gain and body growth.

Keywords :Congenital adrenal hyperplasia, 21-hydroxylase deficiency, Twins