Tyrkus M. Contribution of genetic factors into etiology of idiopathic infertility in males from Western region of Ukraine

The dissertation is devoted to study the genetic factors at etiology of idiopathic male infertility as quantitative and structural chromosome abnormalities, Y-chromosome microdeletions, CFTR gene mutations and Y chromosome AZFc region partial deletions. The quantitative and structural chromosome abnormalities were found in 8,25%, Y-chromosome microdeletions - 7,25%, CFTR gene mutations and 5Т allele of polymorphic locus IVS8polyT - 12,04% males with spermatogenesis failure. The genetic factors of infertility were diagnosed in 17,5% infertile males from Western region of Ukraine with different spermatogenic defects.Y chromosome AZFc region partial deletions were common in the group of infertile males with spermatogenic defects and boys with cryptorchidism in contrast to the control group of fertile males. The obtained results point out that Y chromosome AZFc region partial deletions could be the genetic marker of spermatogenic defects for men and the trigger mechanism of infertility development in boys with cryptorchidism. The algorithm of cyto- and molecular-genetic study for males with idiopathic infertility with the sperm amount <5 million/mL in ejaculate has been.