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Published on: April 10, 2018
Cytogenetic evaluation of 163 azoospermics
F Rivas1, L Garcia-Esquivel, M Diaz
1División de Genética, Unidad de Investigación Biomédica, Jalisco, Mexico.
Journal De Genetique Humaine
|August 1, 1987
Summary
Chromosomal abnormalities are frequent in azoospermic males, with 47,XXY being the most common. These genetic issues occur more often in azoospermic individuals than in infertile males or newborns.
Area of Science:
- Human Genetics
- Reproductive Biology
- Clinical Cytogenetics
Background:
- Azoospermia, the absence of sperm in ejaculate, significantly impacts male fertility.
- Chromosomal abnormalities are known contributors to male infertility, but their prevalence in azoospermia requires detailed investigation.
Purpose of the Study:
- To determine the frequency and types of constitutional chromosomal aberrations in azoospermic patients.
- To compare the prevalence of chromosomal abnormalities in azoospermic males with infertile males and the general newborn population.
Main Methods:
- Karyotyping was performed on 163 azoospermic patients to identify chromosomal abnormalities.
- Literature data was pooled to compare frequencies across different male populations.
Main Results:
- A constitutional chromosomal aberration was diagnosed in 23.3% (38/163) of azoospermic patients.
- The 47,XXY karyotype was the most frequent abnormality (31/38 cases).
- Chromosomal abnormalities are significantly more prevalent in azoospermic males (150.4/1000) compared to infertile males (55.3/1000) and newborns (<6/1000).
Conclusions:
- Constitutional chromosomal aberrations are a significant factor in azoospermia.
- The 47,XXY complement is the primary driver of the increased frequency of abnormalities in azoospermic individuals.
- Certain translocations and inversions are specifically associated with azoospermia, unlike other abnormalities like Robertsonian translocations.
