Three Cases of Congenital Adrenal Hyperplasia Owing to Multiple Mutations of CYP21 Gene.
- Author:
Jun HEO
;
Jae Hong YU
;
Dong Ki JEONG
- Publication Type:Case Report
- Keywords:
Congenital adrenal hyperplasia;
Multiple mutations of CYP21 gene
- MeSH:
Adrenal Hyperplasia, Congenital*;
Cholesterol;
Hydrocortisone;
Korea;
Polymerase Chain Reaction;
Steroid 21-Hydroxylase
- From:Journal of Korean Society of Pediatric Endocrinology
2001;6(2):176-181
- CountryRepublic of Korea
- Language:Korean
-
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.
