Li Lele,Gong Chunxiu.Molecular genetics of cryptorchidism[J].Journal of Clinical Pediatric Surgery,2021,20(10):990-995.[doi:10.12260/lcxewkzz.2021.10.018]
隐睾症相关基因的研究进展
- Title:
- Molecular genetics of cryptorchidism
- Keywords:
- Cryptorchidism/ET; Gene; Moleculargenetics
- 分类号:
- R726.972.2;R726.9
- 摘要:
- 隐睾症是男性生殖系统先天畸形中最常见的一种疾病，其遗传背景复杂，涉及多个基因，但具体发病机制尚不清楚。INSL-3、INSL-3受体基因以及任何影响、阻碍雄激素合成与作用过程的基因、雌激素受体基因（estrogen receptor，ER）等突变均可导致隐睾。此外，还有一些少见基因会引起包含隐睾的综合征，临床工作中对合并多器官畸形者应予以警惕，基因检测有助于精准诊疗。
- Abstract:
- Undescended testis, also known as cryptorchidism, is one of the most common congenital abnormalities in boys.Its genetic mechanism is rather complex, involving a wide range of genes.The key contributing factors to its occurrence remain elusive.Mutations in gene for insulin-like factor 3, its receptor, androgen synthetic and action gene and estrogen receptor gene have been recognized as potential causes.And cryptorchidism may be also a concurrent trait in some rare syndromes and complex malformations cases with specific gene mutation.
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备注/Memo
收稿日期:2020-02-22。
基金项目:北京市医院管理中心儿科学科协同发展中心专项经费资助（编号：XTYB201808）；北京市自然科学基金资助（编号：7204260）；北京市医院管理中心"青苗"计划专项经费资助（编号：QML20201205）
通讯作者:巩纯秀,Email:chunxiugong@sina.com