17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation. Issue 7 (25th July 2022)

• Record Type: Journal Article
• Authors: Han, Li Hui; Wang, Liang; Wu, Xiu Yun
• Is Part Of: Clinical case reports. Volume 10:Issue 7(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-07-25
• Subjects: 17 alpha‐hydroxylase deficiency -- congenital adrenal hyperplasia -- hypertension -- hypokalemia; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.6109
• Languages: English
• ISSNs: 2050-0904

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. 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).