Molecular screening of Y chromosome microdeletions in AZFc and AZFd regions of the non-obstructive azoospermic patients referred to Alzahra hospital in Tabriz

The Y-chromosome azoospermic factor (AZF) regions consist of genes whose specific roles and functions in spermatogenesis have not been completely clarified. Hence, recognition of the association between AZF microdeletions and male infertility has suggestions for the diagnosis, treatment, and genetic counseling among infertile patients. This descriptive-analytical study was performed on 47 infertile men with non-obstructive azoospermic and normal karyotypes referred to infertility center of Alzahra hospital in Tabriz. Molecular AZF screening technique was performed on the genomic DNA from peripheral blood samples. Multiplex PCR and two different sets of sequence-tagged sites (STS) were used to detect the microdeletions in Y-chromosomal AZF regions and the Y specific sequences. Seventeen (36.17%) out of 47 infertile men had deletions in the AZFc and AZFd regions (P<0.05). Among the 17 azoospermic subjects harbouring Y chromosome microdeletions, fourteen were detected in AZFc, two in AZFc+d and one in AZFd regions. Therefore, microdelitions in the AZF regions have a significant effect on azospermia occurrence in the infertile men. Y-chromosome microdeletion analysis can be recommended as an important molecular test among infertile males to obtain reliable genetic information before the administration of assisted-reproductive techniques. It will help to decrease the cost and technical difficulty of the procedure.