Chromosomal constitution of infertile men

Area of Science:

• Human Genetics
• Reproductive Biology
• Clinical Cytogenetics

Background:

• Male infertility affects a significant portion of the population.
• Chromosomal abnormalities are a known contributing factor to male infertility.
• Cytogenetic analysis is crucial for identifying genetic causes of reproductive issues.

Purpose of the Study:

• To investigate the prevalence of chromosomal abnormalities in a cohort of infertile men.
• To identify specific types of chromosomal abnormalities associated with male infertility.
• To evaluate the clinical relevance of cytogenetic findings in infertile males.

Main Methods:

• Mitotic chromosome analyses were performed on 820 infertile men.
• Karyotyping was used to detect sex chromosomal abnormalities, autosomal translocations, and chromosome variants.
• Statistical analysis was employed to determine the prevalence of these abnormalities.

Main Results:

• Overall, 7.3% of infertile men exhibited chromosomal abnormalities.
• Sex chromosomal abnormalities were detected in 3.4% and autosomal translocations in 1.0%.
• Pericentric inversions of chromosome 9 were found in 2.8%, and chromosome variants in 9.3%.

Conclusions:

• Chromosomal abnormalities are relatively common in infertile men.
• Specific abnormalities like sex chromosome issues and translocations are significant findings.
• Cytogenetic evaluation is recommended for men with severe oligozoospermia and azoospermia to identify potential genetic causes of infertility.