Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

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

Authors
Patel Sunny Kumar Jignesh Kumar 1
Purna Mahapatra 2
Sidhartha Sinha 2
Birendranath Banerjee 3
1 Molecular Stress and Stem Cell Biology Group, School of Biotechnology, Kalinga Institute of Industrial Technology, Odisha, India; inDNA Center for Research and Innovation in Molecular Diagnostics, inDNA Life Sciences Private Limit
2 Prachi Clinic and Nursing Home, Odisha, India
3 inDNA Center for Research and Innovation in Molecular Diagnostics, inDNA Life Sciences Private Limited, Odisha, India; JBS Haldane Centre for Molecular Medicine, Silicon University, Odisha, India
Abstract
Background: Infertility is a complex condition that can originate from either male or female factors, or both. Genetic factors, such as damage to the Y chromosome, gene defects, and chromosomal anomalies significantly contribute to infertility. Consequently, cytogenetic analysis is a critical component of the systematic clinical evaluation for diagnosing, managing, and monitoring infertility. The purpose of the present study was to assess the prevalence, types, and significance of chromosomal polymorphisms in the East Indian population with a clinical history of male infertility. Methods: An investigation was conducted on 650 infertile men and 150 fertile men from general population, following the Helsinki Declaration guidelines. A cytogenetic investigation was conducted using G-banding, Ag-NOR banding, and centromeric heterochromatin staining. A Chi-square test was performed to compare the prevalence of chromosomal polymorphic variants. Results: The results of this study revealed significant chromosomal anomalies among the study population. Specifically, 2.61% of these individuals exhibited numerical chromosomal anomalies, while 1.53% showed structural chromosomal anomalies. Notably, there was a statistically significant (p<0.05) increase in the occurrence of total chromosomal polymorphic variations, with 24% of the infertile males found to have total chromosomal polymorphisms. Furthermore, the prevalence of the Yqh+ variant was statistically significant among infertile males (p=0.010), while the 9qh+ variant also showed a significant prevalence (p=0.0.35). Conclusion: The increased prevalence of chromosomal polymorphic variants underscores the need to evaluate their potential role in the etiology of male infertility.
Keywords
Ag
NOR banding
Centromeric heterochromatin staining
Chromosomal polymorphic variants
Cytogenetic analysis
Male infertility
Y chromosome deletion
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Journal of Reproduction & Infertility
Volume 26, Issue 4
Summer 2025
Pages 232-240