Genetic forms of male infertility: main characteristics and practical aspects of laboratory diagnostics

Background. Male infertility is an acute issue in modern andrology, being registered in 45% of infertile couples. After the exclusion of exogenous factors and systemic diseases leading to male infertility (MI), a significant part of MI cases among the remaining patients in the cohort with idiopathic infertility is associated with genetic pathologies. Aim. To generalize data on genetic disorders that lead to a decrease in male fertility and to review methods of their diagnostics. Material and methods. The main genetic forms of MI were reviewed: chromosome diseases (Klinefelter syndrome, de la Chapelle syndrome, etc.) and molecular-genetic disorders (AZF deletions, CFTR compound heterozygotes, the effect of low-penetrative polymorphisms). Special attention was paid to the application of highly-efficient next-generation sequencing (NGS) for identification of germinal mutations in couples with MI through sequencing of exome and target panels with a different number of genes...