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

Clinical Case Reports（2022）

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Abstract

We report a young adult woman with 17 alpha-hydroxylase deficiency (17 alpha-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.

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Key words

17 alpha-hydroxylase deficiency, congenital adrenal hyperplasia, hypertension, hypokalemia

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