J Korean Endocr Soc.  2007 Aug;22(4):299-304. 10.3803/jkes.2007.22.4.299.

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

• Kim KS
• Choi YS
• Bai YS
• Rha SY
• Jo YS
• Shong M

• KMID: 2063542
• DOI: http://doi.org/10.3803/jkes.2007.22.4.299

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.

Keyword

Congenital adrenal hyperplasia; CYP21 gene; Steroid 21-hydroxylase

MeSH Terms

Adrenal Hyperplasia, Congenital*
Amenorrhea
Female
Genotype
Humans
Hydrocortisone
Phenotype
Steroid 21-Hydroxylase
Virilism
Hydrocortisone
Steroid 21-Hydroxylase

Figure

• 

  Fig. 1 Pictures of patient 1 showed virilization, brownish skin (A), and external genital ambiguity (B).

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  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.

• 

  Fig. 3 Pictures of patient 2 showed virilization and hirsutism (A & B).

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  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.

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