| Summary: | Spermatogenesis is a complex biological process of male germ cells differentiation and maturation involving more than 2300 genes in the human. Until recently, only a small part of them was investigated in severe pathozoospermia and male infertility. During the last years clinical utilisation of genomic data obtained by technologies, such as whole exome sequencing and array comparative genomic hybridization, has significantly expanded the opportunities of genomic and cytogenomic analysis, the detecting of multiple pathogenic mutations/variants and copy number variations related to different genetic syndromes and inherited disorders, including male and female infertility. This review provides an update on the genetics of male infertility, presenting a number of genes which related to non-syndromal male infertility as-sotiated with azoospermia and severe oligozoospermia.
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