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Kim, Choi, Bai, Rha, Jo, and Shong: Two Cases of Simple Virilizing Congenital Adrenal Hyperplasia with Compound Heterozygous Mutations of CYP21 Gene
Case Report
Journal of Korean Endocrine Society

Journal of Korean Endocrine Society 2007; 22(4): 299-304.

Published online: 20 August 2007

DOI: https://doi.org/10.3803/jkes.2007.22.4.299

Two Cases of Simple Virilizing Congenital Adrenal Hyperplasia with Compound Heterozygous Mutations of CYP21 Gene

Koon Soon Kim, Yun Sun Choi, Youn Sun Bai, So Young Rha, Young Suk Jo1, Minho Shong

Department of Internal Medicine, Chungnam National University College of Medicine, Korea.

1Department of Internal Medicine, Eulji University College of Medicine, Korea.

Received 21 February 2007       Accepted 30 April 2007

Copyright © 2007 Korean Endocrine Society

Abstract

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.

Keywords: Congenital adrenal hyperplasia, CYP21 gene, Steroid 21-hydroxylase

Figures and Tables

Fig. 1
Pictures of patient 1 showed virilization, brownish skin (A), and external genital ambiguity (B).
jkes-22-299-g001
Fig. 2
Sequences of parts of CYP21 genes of patient 1 (amplification of CYP21 and CYP21P genes using allele-specific primer, ref. 3,6,13). Thin boxes show the mutations leading to steroid 21-hydroxylase deficiency.
jkes-22-299-g002
Fig. 3
Pictures of patient 2 showed virilization and hirsutism (A & B).
jkes-22-299-g003
Fig. 4
Sequences of parts of CYP21 genes of patient 2 (amplification of CYP21 and CYP21P genes using same method applied to patient 1). Thin box and circle shows the mutations leading to steroid 21-hydroxylase deficiency.
jkes-22-299-g004

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