Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment

IntroductionIndividuals with 17-beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency face a multitude of challenges, primarily concerning genital appearance, potential malignancy risks, and fertility issues. This study reports our findings from an investigation involving five individuals a...

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主要な著者:	Yunpeng Wang, Yu Xu, Huijiao Zhang, Danyang Yin, Yiming Pan, Xiwen He, Shuaiting Li, Zhi Cheng, Gaohui Zhu, Ting Zhao, Huizhe Huang, Min Zhu
フォーマット:	Artigo
言語:	Inglês
出版事項:	Frontiers Media S.A. 2024-02-01
シリーズ:	Frontiers in Endocrinology
主題:	17β-HSD3 deficiency HSD17B3 mutation malignancy risk androgen testosterone
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fendo.2023.1267967/full
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