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

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

作者地址："[Wang, Yunpeng; Xu, Yu; Zhang, Huijiao; Zhu, Gaohui; Zhao, Ting; Zhu, Min] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Endocrine & Metab Dis, Minist Educ,Key Lab Child Dev & Disorders,Children, Chongqing, Peoples R China; [Wang, Yunpeng; Xu, Yu; Zhang, Huijiao; Zhu, Gaohui; Zhao, Ting; Zhu, Min] Chongqing Med Univ, Chongqing Key Lab Pediat, Childrens Hosp, Chongqing, Peoples R China; [Wang, Yunpeng; Li, Shuaiting; Huang, Huizhe; Zhu, Min] Chongqing Med Univ, Off Acad Res, Affiliated Hosp 2, Chongqing, Peoples R China; [Wang, Yunpeng; Pan, Yiming; He, Xiwen; Cheng, Zhi] Chongqing Med Univ, Sch Basic Med Sci, Dept Cell Biol & Genet, Lab Dev Biol, Chongqing, Peoples R China; [Xu, Yu] Chongqing Coll Humanities Sci & Technol, Chongqing, Peoples R China; [Yin, Danyang] Capital Med Univ, Beijing Friendship Hosp, Dept Pathol, Beijing, Peoples R China; [He, Xiwen] ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai, Peoples R China"

通信作者："Zhu, M (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Dept Endocrine & Metab Dis, Minist Educ,Key Lab Child Dev & Disorders,Children, Chongqing, Peoples R China.; Zhu, M (通讯作者)，Chongqing Med Univ, Chongqing Key Lab Pediat, Childrens Hosp, Chongqing, Peoples R China.; Huang, HZ; Zhu, M (通讯作者)，Chongqing Med Univ, Off Acad Res, Affiliated Hosp 2, Chongqing, Peoples R China."

来源：FRONTIERS IN ENDOCRINOLOGY

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001174488800001

JCR分区：Q2

影响因子：5.2

年份：2024

卷号：14

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：17 beta-HSD3 deficiency; mutation; malignancy risk; androgen; testosterone

摘要："Introduction: Individuals with 17-beta-hydroxysteroid dehydrogenase type 3 (17 beta-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 17 beta-HSD3 deficiency, ranging in age from pre-adolescence to adolescence. Notably, we identified four previously unreported mutations in these subjects. 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. 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 17 beta-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."

基金机构：National Natural Science Foundation of China [81170723]

基金资助正文："The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the National Natural Science Foundation of China (Grant number 81170723)."