Xie Chong, Chen Xiangfeng, Liu Yulin, Wu Zhengmu, Ping Ping
1 Assisted Reproductive Center, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
2 Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Human Sperm Bank, Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
J Int Med Res. 2018 Jan;46(1):107-114. doi: 10.1177/0300060517718771. Epub 2017 Jul 21.
Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015. Controls were 215 normozoospermic men with offspring. Results Among all patients, 22.6% (206/912) had genetic abnormalities, including 27.3% (146/534) of NOA patients and 15.9% (60/378) of SOS patients. Chromosomal abnormalities (all autosomal) were detected in only 1.9% (4 /215) of controls. In NOA patients, sex chromosomal abnormalities were identified in 25.8% (138/534), of which 8% (43/534) had a 47,XXY karyotype or its mosaic; higher than the SOS group prevalence (1.1%; 4/378). The incidence of Y chromosome microdeletions was lower in the SOS group (13.2%; 50/378) than in the NOA group (17.8%; 95/534). Conclusions The high prevalence of genetic abnormalities in our study indicates the importance of routine genetic testing in severe male infertility diagnosis. This may help determine the choice of assisted reproductive technique and allow specific pre-implantation genetic testing to minimize the risk of transmitting genetic defects.
目的 * 崇谢、陈向峰和刘玉林对本工作贡献相同。近20%的不育男性被发现存在基因缺陷。确定严重男性不育中主要基因异常的频率和类型有助于在辅助生殖技术前进行适当的遗传咨询。方法 本多中心研究回顾了2011年1月至2015年12月在中国东部地区912例非梗阻性无精子症（NOA）和严重少精子症（SOS）患者的细胞遗传学结果。对照组为215名有后代的正常精子男性。结果 在所有患者中，22.6%（206/912）存在基因异常，其中NOA患者为27.3%（146/534），SOS患者为15.9%（60/378）。仅在1.9%（4/215）的对照组中检测到染色体异常（均为常染色体）。在NOA患者中，25.8%（138/534）存在性染色体异常，其中8%（43/534）具有47,XXY核型或其嵌合体；高于SOS组患病率（1.1%；4/378）。SOS组Y染色体微缺失发生率（13.2%；50/378）低于NOA组（17.8%；95/534）。结论 我们研究中基因异常的高患病率表明常规基因检测在严重男性不育诊断中的重要性。这可能有助于确定辅助生殖技术的选择，并允许进行特定的植入前基因检测，以最大限度地降低遗传缺陷传递的风险。
