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

17 β-羟基类固醇脱氢酶-3 缺乏症中的四种新突变的鉴定和我们的临床经验:早期治疗的可能益处

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

Discussion

These findings underscore the critical importance of early intervention in addressing concerns related to genital appearance, based on our extensive clinical experience and assessments. In summary, our study provides insights into the clinical aspects of 17β-HSD3 deficiency, emphasizing the vital significance of early intervention in addressing genital appearance concerns. This recommendation is supported by our comprehensive clinical assessments and experience.

Methods

Our study included a comprehensive evaluation to determine the potential occurrence of testicular tumors. The methods involved clinical examinations, genetic testing, hormone profiling, and patient history assessments. We closely monitored the progress of the study subjects throughout their treatment.

Results

The results of this evaluation conclusively ruled out the presence of testicular tumors among our study subjects. Moreover, four of these individuals successfully underwent gender transition. Furthermore, we observed significant improvements in genital appearance following testosterone treatment, particularly among patients in the younger age groups who received appropriate treatment interventions.

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