Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment
Yunpeng Wang, Yu Xu, Huijiao Zhang, Danyang Yin, Yiming Pan, Xiwen He, Shuaiting Li, Zhi Cheng, Gaohui Zhu, Ting Zhao, Huizhe Huang, Min Zhu · 2024
Read Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment by Yunpeng Wang, Yu Xu, Huijiao Zhang, Danyang Yin, Yiming Pan, Xiwen He, Shuaiting Li, Zhi Cheng, Gaohui Zhu, Ting Zhao, Huizhe Huang, Min Zhu (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10902039.txt.
Description
Yunpeng Wang and co-authors report five young patients with a rare hormone disorder and four mutations never described before. Their study covers 17-beta-HSD3 deficiency, a condition that disrupts testosterone production and affects genital development, fertility, and tumor risk. The patients ranged from pre-adolescence into the teen years.
Each case received examinations, genetic testing, and hormone profiling, with checks for testicular tumors. No tumors were found in any of the five. Four patients completed gender transition as part of their care. Testosterone treatment improved genital appearance, most clearly in the youngest patients treated early. The authors argue from their clinical experience that early treatment brings real benefits. The new mutations also widen the known genetic picture of the disorder.
Catalog record
| CREATOR | Yunpeng Wang, Yu Xu, Huijiao Zhang, Danyang Yin, Yiming Pan, Xiwen He, Shuaiting Li, Zhi Cheng, Gaohui Zhu, Ting Zhao, Huizhe Huang, Min Zhu |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 36 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |