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

被引：5

作者：

Han, Li Hui ^{[1
]}

Wang, Liang ^{[2
]}

Wu, Xiu Yun ^{[3
]}

机构：

[1] Qingdao Univ, Affiliated Weihai Municipal Hosp 2, Qingdao, Shandong, Peoples R China

[2] Shandong Univ, Weihai Municipal Hosp, Cheeloo Coll Med, Jinan, Peoples R China

[3] Weifang Med Univ, Weifang, Shandong, Peoples R China

来源：

CLINICAL CASE REPORTS | 2022年 / 10卷 / 07期

关键词：

17 alpha-hydroxylase deficiency; congenital adrenal hyperplasia; hypertension; hypokalemia; CONGENITAL ADRENAL-HYPERPLASIA; CYP17A1; GENE; LYASE;

D O I：

10.1002/ccr3.6109

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：6

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