Related Experiment Video
Updated: Feb 10, 2026
Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency
Published on: August 6, 2014
The frequencies of Y chromosome microdeletions in infertile males
Emre Can Akınsal1, Numan Baydilli1, Munis Dündar2
1Department of Urology, Erciyes University, Kayseri, Turkey.
Objective:
To determine the frequencies and the characteristics of Y chromosome microdeletions in infertile males.
Material And Methods:
The records of 1616 infertile males were included in the study. The cases were divided into groups according to the infertility etiology and semen analysis. The frequencies and the characteristics of Y chromosome microdeletions were investigated in groups.
Results:
Y chromosome microdeletion was detected in 54 (3.3%) of 1616 cases. Microdeletions in the azoospermia factor (AZF) region were the most common (48.1%). When the cases were grouped according to causes of infertility that could be detected, no Y chromosome microdeletions were detected in some groups (cases with Klinefelter Syndrome, hypogonadotropic hypogonadism, congenital absence of vas deferens, and 47, XYY karyotype).
Conclusion:
Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluations and when required, karyotype analysis may predict the patients for whom Y chromosome microdeletion analysis is necessary and also prevent cost increases.
Insights
Y chromosome microdeletions are common in infertile males, particularly in the azoospermia factor (AZF) region. Identifying specific infertility subgroups can help target genetic testing for Y chromosome microdeletions.
Area of Science:
- Human Genetics
- Reproductive Medicine
- Molecular Biology
Background:
- Y chromosome microdeletions are a significant genetic cause of male infertility.
- Understanding their prevalence and characteristics is crucial for diagnosis and genetic counseling.
Purpose of the Study:
- To determine the frequencies and characteristics of Y chromosome microdeletions in a cohort of infertile males.
- To investigate the association between Y chromosome microdeletions and specific infertility etiologies.
Main Methods:
- Retrospective analysis of medical records from 1616 infertile males.
- Categorization of cases based on infertility etiology and semen analysis.
- Investigation of Y chromosome microdeletion frequencies and characteristics within these groups.
Main Results:
- Y chromosome microdeletions were identified in 3.3% (54/1616) of infertile males.
- Azoospermia factor (AZF) region microdeletions were the most frequent type (48.1%).
- No Y chromosome microdeletions were found in specific groups, including Klinefelter Syndrome and congenital absence of vas deferens.
Conclusions:
- Y chromosome microdeletions occur with notable frequency in particular male infertility subgroups.
- Comprehensive clinical and genetic evaluation can guide the necessity of Y chromosome microdeletion analysis, potentially reducing costs.
Related Concept Videos
01:23Infertility in Males
02:19The Y Chromosome Determines Maleness
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
01:28Infertility in Females
Endometriosis, a condition characterized by abnormal growth of...
02:40Chromosome Structure
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
01:51Lampbrush Chromosomes
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
02:04Polytene Chromosomes