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Chromosomal abnormalities and polymorphisms in infertile men.

S Penna Videaú1, H Araujo, F Ballesta

  • 1Physiology Department, School of Medicine, Universidad de Oriente, Ciudad Bolívar, Venezuela. spenna@cntv.net

Archives of Andrology
|May 8, 2001
PubMed
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Chromosomal abnormalities are common in infertile men, with over 26% showing alterations. Karyotyping is crucial for evaluating males in assisted reproductive technology programs to identify these genetic factors.

Area of Science:

  • Human Genetics
  • Reproductive Medicine

Background:

  • Male infertility affects a significant portion of couples seeking fertility treatment.
  • Chromosomal abnormalities can contribute to male infertility.
  • Genetic evaluation is essential for understanding the causes of infertility.

Purpose of the Study:

  • To determine the prevalence of chromosome alterations and normal variable chromosome features in infertile males.
  • To assess the utility of karyotyping in the diagnostic workup of male infertility.

Main Methods:

  • Karyotyping was performed on 84 men attending an infertility clinic.
  • Analysis focused on identifying sex chromosome abnormalities and chromosomal polymorphisms.

Main Results:

Related Experiment Videos

  • Sex chromosome abnormalities were detected in 19 patients (26.62%).
  • Common abnormalities included aneuploidies (47,XXY, 47,XYY), Y-chromosome long arm deletions, mosaicism, and a Robertsonian translocation.
  • Chromosomal polymorphisms, particularly Yqh+, were observed in 29 patients.

    • Conclusions:

    • A high prevalence of chromosomal abnormalities exists in infertile men.
    • Karyotyping is a valuable tool for evaluating males in assisted reproductive technologies programs.
    • Identifying chromosomal variations is important for reproductive success.