| Abstract [eng] |
Infertility is a failure to achieve a pregnancy after a year of regular unprotected sexual intercourse. It affects approximately 7% of the male population. After the diagnostic investigation recommended by the European Association of Urology, the origin of infertility for about 40% of men with impaired spermatogenesis remains unclear. With the widespread use of Next-Generation Sequencing, a continuously increasing number of monogenic causes of male infertility are being identified. A total of 120 genes are moderately, strongly, or definitively linked to 104 infertility phenotypes. SPAG1 (sperm-associated antigen-1) gene is not yet included in the list of male infertility-implicated genes. However, a case report and analysis of current literature (functional impairment of sperm flagellar motility caused by defects in the outer and inner dynein arms and studies in animal models: Drosophila melanogaster, Etheostoma caeruleum, Sus scrofa domesticus) provide support for the conclusion that male infertility is a likely clinical symptom of primary ciliary dyskinesia-28 resulting from SPAG1 mutations. Pathogenic variants of the KISS1 (KISS-1 metastasis suppressor) gene are associated with male infertility, as supported by a case report and data from the literature review (animal model studies, reported reproductive disorders in other patients, and functional studies revealing that the gene-encoded kisspeptins have an impact on the hypothalamic-pituitary-gonadal axis, steroidogenesis, and spermatozoa functions). |
