Two Siblings of Non Salt Losing Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency.
- Author:
Seung Cheol LEE
1
;
Byung Kyu SUH
;
Byung Churl LEE
Author Information
1. Department of Pediatrics, Catholic University Medical College, Soul, Korea.
- Publication Type:Case Report
- Keywords:
Adrenogenital syndrome;
Congenital adrenal hyperplasia;
21-hydroxylase deficiency
- MeSH:
Adrenal Hyperplasia, Congenital*;
Adrenogenital Syndrome;
Cortisone;
Diagnosis;
Disorders of Sex Development;
Female;
Genetic Linkage;
Genitalia;
Humans;
Hydrocortisone;
Karyotype;
Plasma;
Renin;
Siblings*;
Steroid 21-Hydroxylase*;
Virilism
- From:Journal of the Korean Pediatric Society
1995;38(4):574-581
- CountryRepublic of Korea
- Language:Korean
-
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.
