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

Han, Li Hui; Wang, Liang; Wu, Xiu Yun.

Afiliação

Han LH; The Affiliated Weihai Second Municipal Hospital of Qingdao University Shandong China.
Wang L; Weihai Municipal Hospital, Cheeloo College of Medicine, Shandong University China.
Wu XY; Weifang Medical University Shandong China.

Clin Case Rep ; 10(7): e6109, 2022 Jul.

Article em En | MEDLINE | ID: mdl-35898732

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.

Palavras-chave

17 alphahydroxylase deficiency; congenital adrenal hyperplasia; hypertension; hypokalemia

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article