A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.

Mutations in the CYP17 gene impair steroid biosynthesis in the adrenals and gonads, resulting in 17alpha-hydroxylase/17,20-lyase (P450c17) deficiency, leading to amenorrhea, sexual infantilism, hypokalemia, and hypertension. To date, more than 50 mutations in the CYP17 gene associated with congenital adrenal hyperplasia have been described. In this study, we analyzed a 36-year-old phenotypic female, genotypic male, with P450c17 deficiency to compare with an additional group of 50 Chinese subjects without P450c17 deficiency in Taiwan. DNA sequence analysis of the CYP17 gene was performed. The result showed that the proband had a compound heterozygous mutations in exon 6 (CGC-->TGC) that resulted in the substitution of arginine by cysteine at codon 362, and in exon 7 (CCG-->CGG) that resulted in the substitution of proline by arginine at codon 409. In conclusion, we have identified a compound heterozygous mutation in the CYP17 gene in one patient with congenital adrenal hyperplasia in Taiwan.