Y-Chromosome Microdeletion Analysis in Infertile Men from Upper Egypt

Abstract

Objectives:To study the prevalence and patterns of Y-chromosome microdeletions in infertile men from Upper Egypt and to determine the relationship between Y-chromosome microdeletions with clinicalandlaboratoryfindings in these patients. Design: Cross-sectionalstudy. Patients: Infertile men (n = 210) and a control group of fertile men with normal semen analysis (n = 30). Methods: Clinical evaluation, standard semen analysis according to the WHO guidelines (WHO, 2010)andserumlevels of reproductive hormones were evaluated. Multiplex PCR was done for detection of Y chromosome microdeletions. Results:AZF deletions were present in 7.14% of infertile men (9.59% in azoospermic and 1.56% in oligo-zoospermic men) with no deletions in the fertile normo-zoospericmen.CompleteAZFc was the detected in 2.05% of azoospermicmen.PartialAZFc deletions were found in 5.7% of infertile men, with gr/gr deletion in 5.24% and b2/b3 deletion in 0.48%.There was no significant difference between patients with AZF deletions and azoospermic men without deletions as regards testicular volume and serum levels of FSH, LH, testosterone and prolactin. Conclusions:Microdeletions of Y chromosome may play a role in pathogenesis of non-obstructive azoospermia. The testicular volumes as well as levels of FSH, LH, testosterone and prolactin were not correlated with the finding of Y chromosome microdeletions.