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Updated: May 20, 2026

Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
Published on: April 21, 2022
Chromosomal aberrations, Yq microdeletion, and sperm DNA fragmentation in infertile men opting for assisted
Monis B Shamsi1, Rajeev Kumar, Neena Malhotra
1Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
Abstract:
Male infertility is a multi-factorial disorder, and identification of its etiology in an individual is critical for treatment. Systematically elucidating the underlying genetic causes (chromosomal and Yq microdeletion) and factors, such as reactive oxygen species (ROS) levels and total antioxidant capacity (TAC), which contribute to sperm DNA damage, may help to reduce the number of men with idiopathic infertility and provide them with the most suitable therapeutics and counseling. This study was done to comprehensively investigate genetic and oxidative stress factors that might be the etiology of a large percentage of men with idiopathic infertility. One hundred twelve infertile men and 76 fertile controls were screened for chromosomal aberrations and Yq microdeletions. ROS, TAC, and sperm DNA damage were assessed in cytogenetically normal, non-azoospermic men with intact Y chromosome (n = 93). ROS was assessed in neat and washed semen by chemiluminescence; seminal TAC with a commercially available kit; and sperm DNA damage by the comet assay. Two men had cytogenetic abnormalities and seven men harbored Yq microdeletions. ROS levels in neat and washed semen of infertile men were significantly higher (P < 0.01) than controls. Infertile men had significantly lower (P < 0.01) TAC levels (1.79 mM), whereas sperm DNA fragmentation in infertile men was significantly higher (P < 0.01) than controls. Genetic factors and oxidative stress cumulatively account for large number of idiopathic infertile cases. Unlike, genetic causes, which cannot be cured, timely identification and management of oxidative stress may help to reverse/reduce the effects on induced DNA damage, and improve the outcomes for infertile males.
Insights
Genetic factors and oxidative stress significantly contribute to male infertility. Identifying and managing oxidative stress can improve outcomes for infertile men, unlike genetic causes.
Area of Science:
- Reproductive Medicine
- Human Genetics
- Oxidative Stress Research
Background:
- Male infertility is a complex condition with multiple contributing factors.
- Identifying the etiology is crucial for effective treatment and counseling.
- Idiopathic male infertility remains a significant clinical challenge.
Purpose of the Study:
- To comprehensively investigate genetic (chromosomal aberrations, Yq microdeletions) and oxidative stress factors (ROS, TAC) in idiopathic male infertility.
- To determine the cumulative impact of these factors on sperm DNA damage.
- To explore potential therapeutic targets for improving outcomes in infertile males.
Main Methods:
- Screening of 112 infertile men and 76 fertile controls for chromosomal aberrations and Yq microdeletions.
- Assessment of reactive oxygen species (ROS) and total antioxidant capacity (TAC) in semen.
- Evaluation of sperm DNA damage using the comet assay in cytogenetically normal men with intact Y chromosomes.
Main Results:
- Two infertile men had chromosomal abnormalities, and seven had Yq microdeletions.
- Infertile men exhibited significantly higher ROS levels and sperm DNA fragmentation compared to controls.
- Infertile men displayed significantly lower total antioxidant capacity (TAC) levels.
Conclusions:
- Genetic factors and oxidative stress are significant contributors to idiopathic male infertility.
- While genetic causes are often irreversible, oxidative stress is manageable.
- Timely identification and management of oxidative stress can potentially reverse DNA damage and improve male fertility outcomes.
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