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KMID : 0356620070220040299
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Journal of Korean Society of Endocrinology
2007 Volume.22 No. 4 p.299 ~ p.304
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Two Cases of Simple Virilizing Congenital Adrenal Hyperplasia with Compound Heterozygous Mutations of CYP21 Gene
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Kim Koon-Soon
Choi Yun-Sun
Bai Youn-Sun
Rha So-Young
Jo Young-Suk
Shong Min-Ho
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Abstract
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Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), which is an inherited inability to synthesize cortisol. Actually, CAH is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. In some cases, discordance has been observed between the genotype and the phenotype. We recently experienced two cases of simple virilizing congenital adrenal hyperplasia with compound heterozygous mutations of the CYP21 gene. The patients had primary amenorrhea and showed virilization. We have described these two cases along with a review of the literature.
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KEYWORD
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Congenital adrenal hyperplasia, CYP21 gene, Steroid 21-hydroxylase
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