人类无精子症的遗传基础

Genetic basis and mechanisms underlying human azoospermia

精子发生的任何一步出现异常,均可能导致无精子症,进而引起男性不育.但目前人们对无精子症的致病原因了解甚少.本文在分析男性不育症的诊断和治疗现状的基础上,对无精子症的发病原因,尤其是遗传因素,进行了综述,并对相关研究的局限性予以归纳;最后,对未来研究提出了新的见解和思路,希望充分利用我们已有的资源和技术等优势,发现人类无精子症的致病原因,揭示致病机理,为相关疾病的诊治提供理论支持.

Any abnormalities occurring in spermatogenesis may lead to azoospermia, finally resulting in male infertility. However, the molecular basis and mechanisms underlying these defects remain unidentified. In this review, by analyzing the existing diagnosis and treatments of azoospermia and summarizing the latest research on human spermatogenetic abnormalities, the limitations of current investigations were summarized and new ideas were proposed for future research, in the hope of taking full advantages of our existing resources and technologies to discover the cause of azoospermia, reveal the pathogenesis and finally promote male reproductive health.