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Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes
Achilleas G Mitrakas1, Christina-Angelika Alexiadi1, Sofia Gargani2
1Laboratory of Histology-Embryology, Medical School, Faculty of Health Sciences, Democritus University of Thrace, 68100 Alexandroupolis, Greece.
Medicina (Kaunas, Lithuania)
|October 29, 2025
Summary
Chromosomal abnormalities are a primary cause of male infertility, impacting sperm production and quality. Factors like environment, lifestyle, and age worsen these genetic issues, affecting fertility outcomes.
Area of Science:
- Reproductive Biology
- Genetics
- Andrology
Background:
- Male infertility affects approximately 15% of couples globally.
- Chromosomal abnormalities are a significant underlying cause of male infertility.
- Understanding these anomalies is crucial for fertility assessment and treatment.
Purpose of the Study:
- To review the role of chromosomal anomalies in male infertility.
- To explore contributing factors like environment, lifestyle, and age.
- To synthesize current research on mechanisms and implications.
Main Methods:
- Review of cytogenetic, molecular, and clinical studies.
- Focus on mechanisms of spermatogenesis disruption.
- Analysis of numerical and structural chromosomal anomalies.
Main Results:
- Chromosomal abnormalities impair sperm production (azoospermia/oligospermia) and quality.
- Meiotic errors, environmental toxins, and advanced paternal age exacerbate infertility.
- Specific genetic syndromes directly impact male fertility.
Conclusions:
- Chromosomal abnormalities are central to male infertility pathophysiology.
- Integrated approaches including diagnostics, counseling, and lifestyle changes are essential.
- Further research into biomarkers and therapies can improve outcomes.
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