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.

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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