Kuroda Shinnosuke, Usui Kimitsugu, Sanjo Hiroyuki, Takeshima Teppei, Kawahara Takashi, Uemura Hiroji, Yumura Yasushi
Department of Urology, Reproductive Centre Yokohama City University Medical Centre Kanagawa Japan.
Department of Medical Genetics Yokohama City University Medical Centre Kanagawa Japan.
Reprod Med Biol. 2020 Jun 27;19(4):314-322. doi: 10.1002/rmb2.12336. eCollection 2020 Oct.
At present, one out of six couples is infertile, and in 50% of cases, infertility is attributed to male infertility factors. Genetic abnormalities are found in 10%-20% of patients showing severe spermatogenesis disorders, including non-obstructive azoospermia.
Literatures covering the relationship between male infertility and genetic disorders or chromosomal abnormalities were studied and summarized.
Genetic disorders, including Klinefelter syndrome, balanced reciprocal translocation, Robertsonian translocation, structural abnormalities in Y chromosome, XX male, azoospermic factor (AZF) deletions, and congenital bilateral absence of vas deferens were summarized and discussed from a practical point of view. Among them, understanding on AZF deletions significantly changed owing to advanced elucidation of their pathogenesis. Due to its technical progress, AZF deletion test can reveal their delicate variations and predict the condition of spermatogenesis. Thirty-nine candidate genes possibly responsible for azoospermia have been identified in the last 10 years owing to the advances in genome sequencing technologies.
Genetic testing for chromosomes and AZF deletions should be examined in cases of severe oligozoospermia and azoospermia. Genetic counseling should be offered before and after genetic testing.
目前，六对夫妇中就有一对存在不孕问题，其中50%的病例不孕归因于男性不育因素。在10%-20%表现出严重精子发生障碍的患者中发现了基因异常，包括非梗阻性无精子症。
对有关男性不育与遗传疾病或染色体异常之间关系的文献进行研究和总结。
从实际角度对包括克兰费尔特综合征、平衡易位、罗伯逊易位、Y染色体结构异常、XX男性、无精子因子（AZF）缺失以及先天性双侧输精管缺如等遗传疾病进行了总结和讨论。其中，由于对AZF缺失发病机制的深入阐明，对其的认识有了显著变化。由于技术进步，AZF缺失检测能够揭示其细微变化并预测精子发生状况。由于基因组测序技术的进步，在过去10年中已鉴定出39个可能导致无精子症的候选基因。
对于严重少精子症和无精子症病例，应进行染色体和AZF缺失的基因检测。在基因检测前后均应提供遗传咨询。
