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Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations 期刊论文

编号：

f30859d8-7d92-4e75-9feb-cc1f1fa03d29
作者：

Li, Leilei(李磊磊)#^[1]Yang, Xiao^[1];Wang, Ruixue(王瑞雪)^[1]Liu, Xiaojun^[2];Yu, Yang(于洋)^[1]Feng, Tao^[2];Liu, Ruizhi(刘睿智)*^[1]Zhang, Guirong*^[2]
语种：

英文
期刊：

ANDROLOGIA ISSN：0303-4569 2019 年 51 卷 3 期 ; APR
收录：
关键词：

androgen receptor male infertility novel mutation recurrent mutation
摘要：

The purpose of this study was to investigate the prevalence of androgen receptor gene mutations in idiopathic male infertility in north-east China and to analyse the relationship between genotype and phenotype. Cohorts of 400 male patients with idiopathic infertility and 200 fertile controls were recruited. Clinical investigations were carried out by experienced andrologists. Targeted exome sequencing was used to detect androgen receptor gene mutations, and reproductive hormone levels were measured. We found four mutations in 8/400 patients (2%) and no mutations in controls. In addition, two recurrent mutations (p.S176R and p.A403V) were found in four patients and two patients respectively. Of four mutations, two (p.S233F and p.H715N) represented novel mutations. Almost all of the men with androgen receptor gene mutations showed smaller testicular volumes. However, the reproductive hormone levels were normal or lightly higher in seven men with mutation, apart from one man (P24) who had high follicle-stimulating hormone and luteinising hormone levels but a low testosterone level. In north-east China, there was a higher androgen receptor gene mutation rate among these infertile men, and the mutation of p.S176R deserved more attention particularly. Hormone levels and clinical phenotypes did not help in screening patients at risk of mutations.
推荐引用方式
GB/T 7714：

Li Leilei,Yang Xiao,Wang Ruixue, et al. Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations [J].ANDROLOGIA,2019,51(3).
APA：

Li Leilei,Yang Xiao,Wang Ruixue,Liu Xiaojun,&Zhang Guirong.(2019).Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations .ANDROLOGIA,51(3).
MLA：

Li Leilei, et al. "Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations" .ANDROLOGIA 51,3(2019).
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