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Chromosomal abnormality in men with impaired spermatogenesis
Dana Mierla1, Dumitru Jardan2, Veronica Stoian3
1Life Memorial Hospital, Bucharest, Romania ; Department of Genetics, Faculty of Biology, University of Bucharest, Bucharest, Romania.
International Journal of Fertility & Sterility
|April 4, 2014
Summary
Genetic defects like chromosomal abnormalities and Y chromosome microdeletions are more common in infertile men. Identifying these genetic causes is crucial before fertility treatments such as ICSI.
Area of Science:
- Genetics
- Reproductive Medicine
- Human Biology
Background:
- Chromosomal abnormalities and Y chromosome microdeletions are leading genetic causes of spermatogenesis failure in Caucasians.
- Investigating genetic defects in Romanian men with azoospermia or severe oligozoospermia.
Purpose of the Study:
- To determine the prevalence of genetic defects in Romanian men experiencing infertility.
- To compare genetic defect rates between infertile and fertile Romanian men.
Main Methods:
- Karyotype analysis (G-banding) performed on 850 infertile and 49 fertile men.
- Screening for Y chromosome azoospermia factor (AZF) microdeletions using multiplex PCR in 67 infertile men.
- Statistical comparison using Fisher's exact test.
Main Results:
- Chromosomal abnormalities detected in 12.70% of infertile men versus 8.16% of fertile men.
- Infertile men with severe azoospermia showed higher incidences of genetic defects.
- Infertile men with normal sperm exhibited a higher rate of polymorphic variants.
Conclusions:
- Infertile men, particularly those with severe azoospermia, exhibit a greater prevalence of genetic defects.
- Understanding genetic causes of male infertility is vital before considering treatments like ICSI or TESE/ICSI.
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