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Impairment of spermatogenesis can result from cell-cycle arrest or death of germ cells and potentially occur at any stage of life. Testis maldescensus, fluctuations of hormonal support and a wide range of exogenous factors may contribute to this impairment, likely resulting in a significant reduction in the number of sperm in the ejaculate (oligozoospermia) or azoospermia (the absence of sperm from semen). The testis pathological processes that result in the ablation of a particular cell type will distort the apparent relative expression levels of genes expressed in the testis, given that different cell types have different profiles of gene expression. Known genetic causes of male infertility include chromosome diseases, mitochondrial DNA (mtDNA) mutation, single-gene disease, and multifactor disease. The number of genetic abnormalities found in semen and etiological categories is increasing. Genetic research has made great progress in elucidating the causes of male infertility. Based on the support of high-throughput sequencing technology, more than 2000 genes were found to have mutations or abnormal expression related to spermatogenesis. This has made great contributions to diagnostic value, clinical decision-making, and appropriate genetic counselling. Therefore, this chapter will focus on the influence of gene mutations on male infertility from the perspective of genetics.

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