Zhao Pingsen, Gu Xiaodong, Wu Heming, Deng Xunwei
1 Clinical Core Laboratory, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University, Meizhou, China.
2 Centre for Precision Medicine, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University, Meizhou, China.
J Int Med Res. 2019 Mar;47(3):1114-1123. doi: 10.1177/0300060518816253. Epub 2019 Jan 7.
To determine the prevalence of chromosome abnormalities and azoospermia factor (AZF) microdeletions in Hakka men with infertility in southern China.
Hakka male patients, who received clinical counselling for infertility between August 2016 and October 2017, and fertile male controls, were enrolled into this retrospective study. Patients diagnosed with infertility and controls underwent cytogenetic analysis by standard G-banding; AZF microdeletions were examined by multiplex polymerase chain reaction and capillary electrophoresis.
Out of 918 male patients who received fertility counselling, 57 were diagnosed with infertility due to azoospermia or severe oligozoospermia. Of these infertile patients, 22.81% (13/57) carried chromosome abnormalities, with 47, XXY being the most common abnormal karyotype. In addition, 36.84% (21/57) presented with Y chromosome microdeletions, most frequently in the complete AZFc and partial AZFc region. Duplication of the AZFc region was found in three patients. No AZF microdeletions were found in 60 fertile male controls.
The high AZF microdeletion frequency in the current Hakka population suggests that AZF microdeletion analysis is essential in fertility screening, and combined with cytogenetic analysis, may influence the choice of assisted reproductive techniques and reduce the risk of inherited genetic disease.
确定中国南方客家地区男性不育患者的染色体异常及无精子症因子（AZF）微缺失的发生率。
选取2016年8月至2017年10月间接受不育症临床咨询的客家男性患者以及生育力正常的男性对照者，纳入这项回顾性研究。诊断为不育症的患者及对照者均接受标准G显带细胞遗传学分析；采用多重聚合酶链反应和毛细管电泳检测AZF微缺失。
在918名接受生育咨询的男性患者中，57例被诊断为无精子症或严重少精子症导致的不育症。在这些不育患者中，22.81%（13/57）存在染色体异常，其中47, XXY是最常见的异常核型。此外，36.84%（21/57）存在Y染色体微缺失，最常见于完整的AZFc区域和部分AZFc区域。3例患者发现AZFc区域重复。60名生育力正常的男性对照者未发现AZF微缺失。
当前客家人群中AZF微缺失频率较高，提示AZF微缺失分析在生育力筛查中至关重要，结合细胞遗传学分析，可能会影响辅助生殖技术的选择并降低遗传疾病的遗传风险。
