Y Chromosome Deletions and Male Infertility

The Y chromosome is the smallest chromosome in the human genome and is only transmitted from fathers to sons. There has been interest in understanding the association of Y chromosome deletions with male infertility. In addition to the sex determining region Y (SRY) the Y chromosome long arm (Yq region) harbors genes which regulate spermatogenesis. Studies on infertile men have demonstrated the existence of a gene or gene complex associated with spermatogenesis in the Y chromosome known as the azoospermia factor (AZF). The aim of this study was to investigate Y microdeletions involving some of the AZF genes in AZFa AZFb and AZFc regions in a group of Egyptian infertile males presented with oligo or azoospermia & to correlate the detected microdeletions with the severity of the oligo/azospermia and if possible to investigate whether a specific pattern of Yq11 microdeletions may be associated with different associated clinical & histological features (phenotypes).