To Study the Prevalence of Microdeletions of Azfc & Gr/Gr Regions of Y Chromosome in Males with Azoospermia & Oligospermia

Introduction: Microdeletion of the y chromosome are the second most frequent genetic cause of spermatogenetic failure in infertile male after the Klinefelter syndrome. Microdeletions occur in about one in 4000 men in the general population but its frequency is significantly increased among infertile men. The indication for molecular diagnosis of Y chromosome microdeletion is based on sperm concentration and it is strongly advised in patient affected by azoospermia and severe oligozoospermia (<5×106/ML). Microdeletion in the azoospermia factor AZF): AZFa, AZFb, AZFc Or AZFbc of Y chromosome are clinically relevant and are found in men with severe oligo-or azoospermia. The most frequent deletion type is the AZFc region deletion (~80%) followed by AZFa(0.5-4%), AZFb(1-5%) and AZFbc(1-3%) deletion. Infertility is a global health problem caused by multiple factors and affects approximately 10% to 15% of couples worldwide. The study sought to examine the relationship between male infertility risk and AZFc and gr/gr deletions. Methodology: The present study was conducted at Department of Genetics of MGM Medical College and Hospital Aurangabad from Oct. 2023 to March 2024 amongst male patients diagnosed with azoospermia or oligospermia within reproductive age, often defined as 18–50 years. In order to test for azoospermia and severe oligozoospermia in humans (men), the EAA/EMQN (2014) guidelines recommend using PCR amplification reagents for two markers on the Y chromosome. This assay provides Y chromosome Microdeletion Detection. -Detection mix sets 1 and 4 are for AZFc-sY254, sY160, sY145, and sY255; gr/gr-sY1291, sY1191; and SRY-sY14 [internal control] is for detection mix set 5. Result: The highest frequency of AZFc deletions in this study was found in cases of severe oligozoospermia (81%), while AZFa and b deletions were found in azoospermic and oligozoospermic individuals at comparable frequencies. It’s interesting to note that compared to the SOAS and oligozoospermic groups (3 and 12%, respectively), the azoospermic group had a higher frequency of double deletions (37%). All of these observations suggest that the severity of the phenotype may be influenced not only by the loci but also by the length of deletion (involving multiple loci). Therefore, it would be clinically relevant to closely monitor and counsel oligospermic patients, particularly those with double deletions, regarding their potential for rapid progression to azoospermia. This information will be required because these patients will require appropriate management and counseling in order to preserve their sperm for use in artificial reproductive technologies (ART). Conclusion: We discovered that the eight patients we chose for our study fall into the maximum age group of people between the ages of 21 and 40. Male infertility is a multifactorial condition involving a wide range of disorders. Over 30% of male infertility is thought to be caused by abnormalities in sperm production as a result of a genetic defect. Y-Chromosome The discovered AZF gene microdeletions strongly point to spermatogenic failure, irregular sperm concentration, and male factor infertility. The prevalence and implications of YCMs remain highly variable, despite increased awareness among the world’s infertile male population.