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Y chromosome microdeletions in idiopathic infertile men from West Azarbaijan
Mir Davood Omrani1, Saied Samadzadae, Mortaza Bagheri
1Department of Genetics, Urmia University of Medical Sciences, Urmia, Iran. davood_omrani@umsu.ac.ir
Introduction:
Although assisted reproduction techniques are used extensively in Iran, screening for Y chromosome microdeletions before intracytoplasmic sperm injection is often undervalued. Our aim was to investigate Y chromosome microdeletions in men with idiopathic azoospermia or severe oligospermia.
Materials And Methods:
In 99 selected patients with azoospermia or severe oligospermia and elevated levels of follicle-stimulating hormone and luteinizing hormone in combination with low serum testosterone levels, 20 pairs of sequence-tagged site-based primer sets specific for the Y microdeletion loci were analyzed. Primers were chosen to cover azoospermia factor (AZF) regions as well as deleted in azoospermia (DAZ) and the sex-determining region on Y chromosome (SRY) genes. Also, 100 healthy men served as a control group.
Results:
Twenty-four patients (24.2%) had microdeletions in AZF genes, but no microdeletions were found in men in the control group. In 15 patients (62.5%), 1 deletion was found. Six patients (25%) had 2, and 3 (12.5%) had 3 deletions. The deletions mainly comprised the AZFc region (in 21 of 24 patients; 87.5%), which corresponds to the DAZ gene. Deletions in AZFb were found in 7 patients (29.2%), and 4 (16.7%) had deletions in the proximal part of AZF regions near SRY gene. No microdeletions were seen in the AZFa or SRY gene.
Conclusion:
Our results emphasize that Y chromosome microdeletion analysis should be carried out in all patients with idiopathic azoospermia or severe oligospermia who are candidates for intracytoplasmic sperm injection.
Insights
Y chromosome microdeletions are common in men with idiopathic azoospermia or severe oligospermia. Screening for these deletions is crucial before intracytoplasmic sperm injection to improve assisted reproduction outcomes.
Area of Science:
- Human Genetics
- Reproductive Medicine
- Molecular Biology
Background:
- Intracytoplasmic sperm injection (ICSI) is a widely used assisted reproduction technique.
- Screening for Y chromosome microdeletions is often overlooked in Iran before ICSI.
- This study investigates Y chromosome microdeletions in infertile men.
Purpose of the Study:
- To determine the frequency of Y chromosome microdeletions in Iranian men with idiopathic azoospermia or severe oligospermia.
- To assess the clinical relevance of Y chromosome microdeletion screening in candidates for ICSI.
Main Methods:
- Analyzed 99 infertile men and 100 healthy controls.
- Used sequence-tagged site (STS) primers for Y chromosome microdeletion loci, including azoospermia factor (AZF) regions, deleted in azoospermia (DAZ), and sex-determining region on Y chromosome (SRY) genes.
- Assessed hormone levels (FSH, LH, testosterone) in patients.
Main Results:
- 24.2% of infertile patients had Y chromosome microdeletions.
- The AZFc region, containing the DAZ gene, was the most commonly deleted region (87.5%).
- Deletions in AZFb (29.2%) and proximal AZF regions (16.7%) were also observed, but not in AZFa or SRY genes.
Conclusions:
- Y chromosome microdeletions are prevalent in men with idiopathic azoospermia or severe oligospermia.
- Routine screening for Y chromosome microdeletions is recommended for these patients prior to ICSI.
- This screening can aid in genetic counseling and reproductive decision-making.
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