Genetika, Volume 60, Nº 11 (2024)

It is known that pathogenic variants of genes controlling spermiogenesis can lead to the monomorphic teratozoospermia, which is characterized by the predominance of morphological abnormalities of any one type – globozoospermia, macrozoospermia, sperm acephaly, multiple abnormalities of the sperm flagellum, as well as polymorphic teratozoospermia, when several types of sperm abnormalities occur in the ejaculate. The information obtained as a result of systematization and analysis of information on pathogenic gene variants associated with impaired sperm morphology may be useful for understanding the molecular mechanisms of teratozoospermia. The evidences from 134 literature sources and the databases Malacards, OMIM, KEGG, CTD, DisGeNET were obtained. The information on 109 human genes pathogenic variants of which are associated with the teratozoospermia (globozoospermia, multiple flagellum abnormalities syndrome, dysplasia of the fibrous membrane of the flagellum of spermatozoa, acephaly, macrozoospermia, polymorphic teratozoospermia) was systematized. It was revealed that each type of teratozoospermia is caused by a violation of specific biological processes. However, pathogenic gene variants controlling the processes associated with the organization and functioning of the cytoskeleton and intracellular transport make the greatest contribution genetically determined teratozoospermia.