Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A, Liebaers I
Centre for Medical Genetics, University Hospital, Dutch-speaking Free University of Brussels, Belgium.
Hum Reprod. 1996 Dec;11 Suppl 4:1-24; discussion 25-6. doi: 10.1093/humrep/11.suppl_4.1.
Chromosomally derived sterility has long been recognized. A review of the literature of somatic chromosome investigations in infertile males has shown that 13.7% of azoospermic males and 4.6% of oligozoospermic males have an abnormal karyotype. In the first group, sex chromosome abnormalities predominate (mainly 47,XXY), whereas in the latter, autosome anomalies (i.e. Robertsonian and reciprocal translocations) are the most frequent. A similar review on meiotic studies revealed that meiotic chromosome anomalies can explain male infertility in 4.3-40.4% of patients. Recently, fluorescent in-situ hybridization studies on spermatozoa from infertile men were published; it was suggested that both X-Y pairing and pairing of the autosomes were impaired, resulting in spermatogenic disruption. We investigated cytogenetically 694 infertile men with abnormal sperm parameters. More patients are needed for this research to investigate the relationship, if any, between the type of chromosome abnormality and its influence on the number, morphology and motility of spermatozoa. To be able to provide proper counselling for those couples whose male infertility can now be treated by intracytoplasmic sperm injection, it is suggested that clinical investigations should include mitotic and meiotic studies, an analysis of the chromosome content of individual spermatozoa and a DNA analysis of blood and spermatozoa to detect partially deleted Y chromosome material.
染色体异常导致的不育早已为人所知。对不育男性体细胞染色体研究文献的回顾表明，13.7%的无精子症男性和4.6%的少精子症男性存在核型异常。在第一组中，性染色体异常占主导（主要是47,XXY），而在后者中，常染色体异常（即罗伯逊易位和相互易位）最为常见。对减数分裂研究的类似回顾显示，减数分裂染色体异常可解释4.3%至40.4%患者的男性不育。最近，发表了对不育男性精子的荧光原位杂交研究；结果表明，X-Y配对和常染色体配对均受损，导致生精功能破坏。我们对694名精子参数异常的不育男性进行了细胞遗传学研究。为了研究染色体异常类型与其对精子数量、形态和活力的影响之间的关系（如果存在的话），还需要更多患者参与此项研究。为了能够为那些现在可以通过胞浆内单精子注射治疗男性不育的夫妇提供适当的咨询建议，建议临床研究应包括有丝分裂和减数分裂研究、单个精子染色体含量分析以及血液和精子的DNA分析，以检测部分缺失的Y染色体物质。
