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Editorial: New Gene Targets in the Study of Hypogonadotropic Hypogonadism
Molecular and Cellular Endocrinology ( IF 3.8 ) Pub Date : 2020-11-13 , DOI: 10.1016/j.mce.2020.111077
Deborah J Good 1
Affiliation  

The incidence of congenital hypogonadotropic hypogonadism (HH) is approximately 1-10 in 100,000 live births. Known syndromes, such as Kallman syndrome, caused by a mutation in the KAL-1 gene, and other genes listed in the Online Mendelian Inheritance in Man database, account for 2/3 of the cases. The rest of these cases where a genetic cause for HH are termed idiopathic. In this editorial, I describe each of the articles in the Special Issue on Hypogonadotropic Hypogonadism, with a focus on new genes that might be included in future screens of idiopathic patients.



中文翻译:

社论:低促性腺激素性腺功能减退症研究中的新基因靶点

先天性低促性腺激素性性腺功能减退症 (HH) 的发病率约为每 100,000 名活产婴儿中的 1-10 人。已知的综合征,例如由 KAL-1 基因突变引起的卡尔曼综合征,以及曼德尔在线孟德尔遗传数据库中列出的其他基因,占病例的 2/3。其余的 HH 的遗传原因被称为特发性。在这篇社论中,我描述了关于低促性腺激素性腺功能减退症特刊中的每一篇文章,重点是可能包含在未来特发性患者筛查中的新基因。

更新日期:2020-11-13
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