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

Han Li Hui | Zendy; Wang Liang | Zendy; Wu Xiu Yun | Zendy

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

Author(s) -

Han Li Hui,

Wang Liang,

Wu Xiu Yun

Publication year - 2022

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.6109

Subject(s) - cyp17a1 , medicine , hypokalemia , compound heterozygosity , mutation , endocrinology , alpha (finance) , 21 hydroxylase , glucocorticoid , chinese family , gene , pediatrics , genetics , surgery , congenital adrenal hyperplasia , biology , construct validity , patient satisfaction

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.

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