Evaluating Y Chromosome Microdeletions in Infertile Men with Severe Oligozoospermia or Azoospermia at Imam Reza Hospital In Meshad

• Published in: Journal of reproduction & infertility Vol. 11; no. 4
• Main Authors: Keshvari Shirvan, Maliheh, Taghavi Razavizadeh, Rahim, Ashraf, Hami
• Format: Journal Article
• Language: English
• Published: Tehran Office for Scientific Journals 01.12.2010
• ISSN: 2228-5482; 2251-676X

Background: Male factors account for nearly 50% of infertilities, among which genetic defects constitute some of the major ones. Microdeletion of the long arm of Y chromosome has been seen in about 7% of infertile men. The importance of these microdeletions lies in the possibility of their occurrence in the off-springs in ART and their de novo appearance. Methods: This cross-sectional descriptive-analytical study was performed on 47 individuals with azoospermia or severe oligozoospermia. The cases were recruited when they attended Imam Reza Hospital in Mashad during 2006-2008. Hormone profile, including FSH, was measured and karyotyping, testicular biopsy and Y chromosome microdeletion detection, using 11 pairs of sequence-tagged site (STS method) sets which were specific for AZF and SRY loci, were performed. Results: Three out of four patients with azoospermia had Y chromosome microdeletion (8.5%). Klinefelter's syndrome and deletion of SRY region were each seen in two patients (4.3%). Multiple AZF region deletions were seen in 75% of Y chromosome microdeletions and deletions in AZFa, AZFb and AZFc regions were seen in 25%, 75% and 100% of the cases, respectively. The prevalence of AZF deletion in patients with and without FSH abnormality were 17.6% and 3.3%, respectively, however, the differences were not statistically significant (p = 0.125). In patients with azoospermia and severe oligozoospermia, AZF deletion were 11.1% and 5%, respectively (p = 0.628). In addition, there were no significant differences in AZF deletion between patients suffering from varicocele or other related disease (p = 1.0). Family history had no significant effect on AZF deletion (p = 0.239). Testicular biopsy showed Sertoli-cell-only syndrome in three out of four patients with AZF microdeletions. Conclusion: Male factor infertility is associated with a high incidence of Y chromosome microdeletions and transmission of these defects to the off-springs in ART, aside from their de novo occurrence, seems probable. Therefore, it would be wise to look for microdeletions in cases with severe oligozoospermia or cases with non-obstructive azoospermia. There seems to be a correlation between the prevalence of AZF regional deletions and the degree of spermatogenesis disruption but this finding needs further scientific evidence.