Frequency of Y chromosome microdeletions among infertile men undergoing Assisted Reproductive Techniques in the south of Iran

Background: Y chromosome microdeletions of AZF region count for the second major genetic cause of male infertility. Y chromosome microdeletions are associated with abnormal spermatogenesis and it has been confirmed that these deletions are involved in Azoospermia and severe Oligozoospermia. However, the prevalence of these deletions and also the most frequent variant vary between different ethnic populations.Methods: 97 infertile men who underwent ART as the case group and 100 fertile men as the control group were enrolled in this study. DNA was extracted from peripheral blood and tested for Y chromosome microdeletions by multiplex PCR of eight known Sequence-Tagged Sites (STSs).Result: No deletion was detected in the control group. 20 out of 97 (20.6%) infertile men had Y chromosome microdeletion. Among these deletions, AZFc was the most frequent in 15 out of 20 cases (75 %), followed by AZFbc; in four cases (20 %) and AZFabc; in one case (5%).Conclusion: Our study shows the relatively high frequency of Y chromosome microdeletions among Oligozoospermic and non-obstructive Azoospermic patients and based on the fact that these deletions reduce the success rate of Assisted Reproductive Technologies, screening Azoospermic patients for Y chromosome microdeletions before undergoing ART is strongly suggested.

Keywords:

Azoospermia , Oligozoospermia , Y chromosome microdeletion , Assisted Reproductive Technologies