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Ann Pediatr Endocrinol Metab > Volume 6(2); 2001 > Article
Three Cases of Congenital Adrenal Hyperplasia Owing to Multiple Mutations of CYP21 Gene.
Jun Heo, Jae Hong Yu, Dong Ki Jeong
Abstract
Congenital adrenal hyperplasia(CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. We have analyzed CYP21 genes of CAH by PCR direct sequencing. Our results shows three cases of CAH owing to multiple mutations of CYP21 gene; first case, IVS2AS, A/G, -13, Ile172Asn; second case, IVS2AS, A/G, -13, Ile236Asn, Val237Glu, Met239Lys; third case, Ile172Asn, C to G at 1590nt, Val281Leu, Arg484Pro, G to A at 2697nt. Mutations such as Ile236Asn, Val237Glu, Met239Lys, and Arg484Pro are first noted in Korea.
Keywords: Congenital adrenal hyperplasia;Multiple mutations of CYP21 gene


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