Investigation of chromosomal abnormalities in men with non-syndromic non-obstructive azoospermia

Background and Aim: Azoospermia is the most severe type of male infertility in which there is no sperm in the semen. Chromosomal abnormalities are one of the most important leading causes of azoospermia. In this research, we aim to investigate the prevalence of chromosomal problems in patients with non-syndromic non-obstructive azoospermia (NOA) and assess the contribution of these problems in this disease.Methods: We performed karyotyping and Y chromosome microdeletions (YCMDs) analysis in a group of ۱۶ patients with non-syndromic NOA.Results: Two patients were reported with abnormal karyotypes; one with karyotype ۴۶,XY,t(۱;۲۲) (q۱۲;q۱۳.۳), which according to previous reports on translocation of chromosome ۱ with an acrocentric chromosome, it is likely that such a chromosomal defect leads to a defect in meiosis due to the interaction between the quadrivalent-XY-body, which can lead to azoospermia. The second patient was reported with karyotype ۴۶,XY,t(۱۳; ۱۵)(q۱۲.۲;p۱۱.۱). So far, there have been reports of a link between break points on chromosomes ۱۳ and ۱۵ and male infertility, which raise the possibility that such a karyotype plays a role in azoospermia. Also, no YCMD was observed in any of the patients examined.Conclusion: In this study, chromosomal abnormalities were observed in ۱۲.۵% of patients, which is a significant contribution and shows the importance of chromosomal studies in the first step to diagnose the cause of azoospermia. To confirm the contribution of these karyotypes ,۴۶,XY,t(۱; ۲۲)(q۱۲;q۱۳.۳) and ۴۶,XY,t(۱۳;۱۵)(q۱۲.۲;p۱۱.۱), in azoospermia, it is needed to analyze the karyotypes in family members of these two patients.

کلیدواژه ها:

Male infertility ، azoospermia ، karyotype ، cytogenetic analysis ، Y chromosome microdeletions.