Molecular investigation of Y chromosome microdeletions in AZF regions of the non-obstructive azoospermic and oligospermic patients referred to Montaseriyeh infertility center in Mashhad

Background and Aim: The Y-chromosome azoospermic factor (AZF) regions consist of genes whose specific roles and functions in spermatogenesis and fertility 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. The main objective of the present study was investigation of Y chromosome microdeletions in the non-obstructive azoospermic and oligospermic patients in Mashhad and identification of appropriate STS markers associated with azoospermia and oligospermia. Materials and Methods: This descriptive-analytical study was performed on 45 infertile men with azoospermia and oligospermia with normal karyotypes referred to infertility center of Montaseriyeh hospital in Mashhad. Molecular screening technique was performed by using Multiplex PCR and sequence-tagged sites (STS) primers according to the EAA/EMQN guideline for detection of microdeletions in Y-chromosomal AZF regions and the Y specific sequences. Results: Three out of 45 infertile men had deletions in the AZFc and AZFa regions. Among every 3 infertile men, two patients (7.7%) and one patient (5%) had microdeletion in the AZFc region and in the AZFa, respectively. The results indicated that AZF microdeletions had a significant effect on azoospermia and oligospermia in infertile men. Conclusion: Y-chromosome microdeletion analysis can be recommended as an important molecular test for 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.