17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation

Abstract

Abstract We report a young adult woman with 17 alpha‐hydroxylase deficiency (17α‐OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985–987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient's hypertension and hypokalemia were resolved after taking medications of glucocorticoid, aldactone, and calcium antagonists.

Keywords

• 17 alpha‐hydroxylase deficiency
• congenital adrenal hyperplasia
• hypertension
• hypokalemia