The Potential Role of Chromosomal Polymorphic Variations Attributed to Male Infertility: A Retrospective Cohort Study

Area of Science:

• Genetics
• Reproductive Biology
• Human Cytogenetics

Background:

• Infertility stems from male, female, or combined factors, with genetic causes like Y chromosome damage and chromosomal anomalies being significant.
• Cytogenetic analysis is essential for diagnosing, managing, and monitoring infertility.

Purpose of the Study:

• To determine the prevalence, types, and significance of chromosomal polymorphisms in East Indian men with male infertility.
• To investigate the association between specific chromosomal variants and male infertility in this population.

Main Methods:

• Cytogenetic investigation using G-banding, Ag-NOR banding, and centromeric heterochromatin staining.
• Analysis of 650 infertile men and 150 fertile controls.
• Statistical comparison using the Chi-square test.

Main Results:

• Significant chromosomal anomalies were found: 2.61% numerical and 1.53% structural.
• A statistically significant increase in total chromosomal polymorphic variations was observed in infertile males (24%).
• The Yqh+ variant (p=0.010) and 9qh+ variant (p=0.035) showed statistically significant prevalence in infertile males.

Conclusions:

• The elevated prevalence of chromosomal polymorphic variants suggests their potential role in the etiology of male infertility.
• Further evaluation of these variants is warranted to understand their contribution to infertility.