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Congenital Adrenal Hyperplasia with 21-hydroxylase Deficiencies in Twins

Journal of the Korean Pediatric Society 1994;37(10):1469-1473.
Published online October 15, 1994.
Congenital Adrenal Hyperplasia with 21-hydroxylase Deficiencies in Twins
Young Don Kim1, Jeong Hwa Choi1, Jae Hong Park1, Hee Ju Park1, Seong Suk Jeon2
1Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea
2Department of Pediatrics, Ilsin Christain Hospital, Pusan, Korea
쌍생아에서 발생한 21 Hydroxylase 결핍에 의한 선천성 부신피질 과형성증 1례
김영돈1, 최정화1, 박재홍1, 박희주1, 전성숙2
1부산대학교 의과대학 소아과학교실
2일신기독병원 소아과
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.
Key Words: Congenital adrenal hyperplasia, 21-hydroxylase deficiency, Twins


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