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Background <p>Genetic factors particularly chromosomal abnormalities and Y chromosome microdeletions are key contributors to male infertility associated with spermatogenic failure. Determining their prevalence and distribution aids in precise diagnosis and counseling before assisted reproduction. We hypothesized that chromosomal abnormalities would be enriched in azoospermic men, while Y chromosome microdeletions would show a wider distribution across subgroups with impaired spermatogenesis. This study assessed the frequency, spectrum, and subgroup distribution of chromosomal abnormalities and Y chromosome microdeletions in infertile men from Western India.</p> Methods and materials <p>This retrospective analysis included 242 infertile men referred to the Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Center, Gujarat, India, from 2014 to 2023. All underwent conventional karyotyping and Y chromosome microdeletion analysis.</p> Results <p>Genetic defects were identified in 56 of 242 patients (23.13%). Chromosomal abnormalities were found in 9.50% and Y chromosome microdeletion in 13.63%. Sex chromosome abnormalities accounted for 7.85%, predominantly Klinefelter syndrome (7.02%), while 1.65% showed autosomal balanced translocations. Polymorphic variants were also noted among infertile men with otherwise normal karyotypes. The AZFc region showed the highest frequency of deletions, followed by AZFa + b + c, AZFb + c, and AZFb. Most Y chromosome microdeletions occurred in men with azoospermia or oligoasthenoteratozoospermia without chromosomal abnormalities; two cases had both karyotypic and Y chromosome microdeletion defects.</p> Conclusion <p>Genetic abnormalities extend beyond azoospermic and severe oligospermic men to include those with asthenozoospermia and oligoasthenoteratozoospermia, underscoring the need for genetic evaluation in this broader group. The high prevalence of chromosomal anomalies, Y chromosome microdeletions, and polymorphic variants among infertile men in Western India highlights the importance of routine genetic testing prior to assisted reproductive interventions.</p>

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Chromosomal and molecular abnormalities in men with impaired spermatogenesis in Western India

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月30日

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  • Kumari Pritti,
  • Sumesh Choudhary,
  • Hetvi Patel,
  • Jainik Patel,
  • Dipak Dhoriya,
  • Ankita Suthar,
  • Kunur Shah,
  • Rohina Aggarwal

摘要

Background

Genetic factors particularly chromosomal abnormalities and Y chromosome microdeletions are key contributors to male infertility associated with spermatogenic failure. Determining their prevalence and distribution aids in precise diagnosis and counseling before assisted reproduction. We hypothesized that chromosomal abnormalities would be enriched in azoospermic men, while Y chromosome microdeletions would show a wider distribution across subgroups with impaired spermatogenesis. This study assessed the frequency, spectrum, and subgroup distribution of chromosomal abnormalities and Y chromosome microdeletions in infertile men from Western India.

Methods and materials

This retrospective analysis included 242 infertile men referred to the Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Center, Gujarat, India, from 2014 to 2023. All underwent conventional karyotyping and Y chromosome microdeletion analysis.

Results

Genetic defects were identified in 56 of 242 patients (23.13%). Chromosomal abnormalities were found in 9.50% and Y chromosome microdeletion in 13.63%. Sex chromosome abnormalities accounted for 7.85%, predominantly Klinefelter syndrome (7.02%), while 1.65% showed autosomal balanced translocations. Polymorphic variants were also noted among infertile men with otherwise normal karyotypes. The AZFc region showed the highest frequency of deletions, followed by AZFa + b + c, AZFb + c, and AZFb. Most Y chromosome microdeletions occurred in men with azoospermia or oligoasthenoteratozoospermia without chromosomal abnormalities; two cases had both karyotypic and Y chromosome microdeletion defects.

Conclusion

Genetic abnormalities extend beyond azoospermic and severe oligospermic men to include those with asthenozoospermia and oligoasthenoteratozoospermia, underscoring the need for genetic evaluation in this broader group. The high prevalence of chromosomal anomalies, Y chromosome microdeletions, and polymorphic variants among infertile men in Western India highlights the importance of routine genetic testing prior to assisted reproductive interventions.