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

Journal of the Korean Pediatric Society 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 Lee, Byung Kyu Suh, Byung Churl Lee
Department of Pediatrics, Catholic University Medical College, Soul, Korea
자매에서 발생한 21-hydroxylase결핍에 의한 선천성 부신피질 과증식
이승철, 서병규, 이병철
가톨릭대학교 의과대학 소아과학교실
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.
Key Words: Adrenogenital syndrome, Congenital adrenal hyperplasia, 21-hydroxylase deviciency


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