Article
Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.
Frontiers in endocrinology - 1 Jan 2022
Zhang Duoduo, Yao Fengxia, Luo Min, Wang Yanfang, Tian Tiffany, Deng Shan, Tian Qinjie
Abstract excerpt
Introduction: Complete 17α-hydroxylase deficiency (17OHD) is relatively common, with typical juvenile female genitalia, severe hypertension, hypokalemia, and the absence of sexual development, but partial (or non-classical) 17OHD (p17OHD) is extremely rare. The p17OHD patients can present with a broad spectrum of symptoms in 46,XX karyotype including various degree of spontaneous breast development after puberty,...
Topics
- Female
- Humans
- Adrenal Hyperplasia, Congenital
- Hormones
- Mutation
- Ovarian Cysts
- Retrospective Studies
- Steroid 17-alpha-Hydroxylase