Genetic basis and mechanisms underlying human azoospermia

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.