17α-羟化酶缺乏症：一名携带罕见基因突变的年轻中国女性病例报告。
17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.
作者信息
Han Li Hui, Wang Liang, Wu Xiu Yun
机构信息
The Affiliated Weihai Second Municipal Hospital of Qingdao University Shandong China.
Weihai Municipal Hospital, Cheeloo College of Medicine, Shandong University China.
出版信息
Clin Case Rep. 2022 Jul 25;10(7):e6109. doi: 10.1002/ccr3.6109. eCollection 2022 Jul.
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.
我们报告了中国山东省一名患有17α-羟化酶缺乏症（17α-OHD）的年轻成年女性。该患者在CYP17A1基因中携带复合杂合突变：c.985-987 delinsAA（p.Tyr329LysfsX90）和c.1486C>T（p.Arg496Cys）。服用糖皮质激素、安体舒通和钙拮抗剂后，患者的高血压和低钾血症得到缓解。
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