Identification of steroid biosynthetic defects in genotype‐proven heterozygous individuals for 17α‐hydroxylase/17,20‐lyase deficiency

Objective  P450c17 deficiency (17α‐hydroxylase/17,20‐lyase deficiency, 17OHD) is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations. The D487_F489 deletion in exon 8 and Y329fs in exon 6 are relatively frequent mutations of the CYP17A1 gene in China that completely abolish the enzyme activity of P450c17. However, little remains known about steroid biosynthetic functions in carriers with these mutations in a single allele of the CYP17A1 gene, who are assumed to have 50% P450c17 activity. We investigated adrenal steroidogenic function in genotype‐proven heterozygotes carrying such mutations in the CYP17A1 gene in vivo.

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