Open Access17 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.