Xie Xiaolei, Guo Xiaoyan, Li Fuguang, Tan Weihe, Yin Weiguo, Chen Runqinag
Prenatal Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, Guangdong, China.
Molecular Diagnosis Center, The Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, Guangdong, China.
J Int Med Res. 2020 Feb;48(2):300060519875893. doi: 10.1177/0300060519875893. Epub 2019 Sep 19.
Genetic defects and endocrine-related factors are the leading causes of male infertility. This study was performed to analyze the genetic characteristics and sex hormone levels in different types of male infertility.
A total of 423 men with infertility underwent genetic and sex hormone analysis at The Sixth Affiliated Hospital of Guangzhou Medical University.
The incidences of abnormal karyotypes in patients with male infertility, azoospermia, and oligoasthenozoospermia were 6.94%, 22.40%, 15.09%, respectively. Among men with azoospermia, Klinefelter syndrome (47,XXY) was identified in 60.71% (17/28) of those with abnormal karyotypes. Additionally, the levels of follicle-stimulating hormone and human luteinizing hormone were significantly higher in men with azoospermia showing abnormal karyotypes than in men of the other study groups. The serum testosterone level in men with azoospermia showing abnormal karyotypes was lower than that in men of the other study groups.
Azoospermia is closely associated with chromosome abnormalities. The levels of testosterone, human luteinizing hormone, and follicle-stimulating hormone in men with azoospermia showing abnormal karyotypes provide a clinical reference for genetic counseling and assisted reproduction.
遗传缺陷和内分泌相关因素是男性不育的主要原因。本研究旨在分析不同类型男性不育的遗传特征和性激素水平。
广州医科大学附属第六医院对423例不育男性进行了遗传和性激素分析。
男性不育、无精子症和少弱精子症患者的染色体核型异常发生率分别为6.94%、22.40%、15.09%。在无精子症男性中，染色体核型异常者中60.71%（17/28）被诊断为克兰费尔特综合征（47，XXY）。此外，染色体核型异常表现为无精子症的男性，其促卵泡生成素和人促黄体生成素水平显著高于其他研究组男性。染色体核型异常表现为无精子症的男性血清睾酮水平低于其他研究组男性。
无精子症与染色体异常密切相关。染色体核型异常表现为无精子症的男性的睾酮、人促黄体生成素和促卵泡生成素水平为遗传咨询和辅助生殖提供了临床参考。
