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Cytogenetic study in idiopathic infertile males
S R Ismail1, A H el-Beheiry, M M Hashishe
1Department of Human Genetics, Alexandria University.
The Journal of the Egyptian Public Health Association
|January 1, 1993
Summary
Sex chromatin testing revealed X-chromatin positivity in 7% and Y-chromosome abnormalities in 18% of infertile males. These findings, particularly mosaic Klinefelter syndrome, highlight the need for chromosomal analysis in male infertility investigations.
Area of Science:
- Reproductive Biology
- Human Genetics
- Andrology
Background:
- Idiopathic male infertility, characterized by oligospermia or azoospermia, affects a significant portion of the population.
- Sex chromatin analysis (X-chromatin and Y-chromatin) is a diagnostic tool for identifying chromosomal abnormalities.
Purpose of the Study:
- To investigate the prevalence of sex chromatin abnormalities in males with idiopathic infertility.
- To determine the correlation between Y-chromosome variations and the severity of infertility (oligospermia vs. azoospermia).
- To identify specific chromosomal abnormalities associated with positive X-chromatin and aberrant Y-bodies.
Main Methods:
- Sex chromatin investigations (X-chromatin and Y-chromatin) were performed on 100 infertile males.
- Y-chromosome analysis included assessment of Y-body size and number.
- Karyotyping was conducted on patients with abnormal sex chromatin findings.
Main Results:
- Seven percent (7%) of males were X-chromatin positive.
- Eighteen percent (18%) exhibited aberrant Y-bodies (large, small, or double Y).
- Y-chromosome abnormalities were more common in azoospermic males than oligospermic males.
- Chromosomal analysis revealed mosaic Klinefelter syndrome in all seven X-chromatin positive azoospermic cases (46,XY/47,XXY or 46,XY/47,XXY/48,XXYY mosaics).
Conclusions:
- Sex chromatin analysis is a valuable screening tool for male infertility.
- Aberrant Y-chromosomes and X-chromatin positivity are indicators of underlying chromosomal abnormalities, particularly mosaic Klinefelter syndrome.
- Comprehensive chromosomal analysis alongside sex chromatin testing is essential for diagnosing male infertility.