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Article

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

Frontiers in endocrinology - 1 Jan 2023

Wang Yunpeng, Xu Yu, Zhang Huijiao, Yin Danyang, Pan Yiming, He Xiwen, Li Shuaiting, Cheng Zhi, Zhu Gaohui, Zhao Ting, Huang Huizhe, Zhu Min

Abstract excerpt

Introduction: Individuals 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 affected by 17β-HSD3 deficiency, ranging in age from pre-adolescence to adolescence. Notably, we identified four...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38425490
DOI: 10.3389/fendo.2023.1267967
PMCID: PMC10902039

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