Objectives: To study the prevalence and patterns ofY-chromosome microdeletions in infertile men from Upper Egypt and to determine the relationship between Y-chromosome microdeletions with clinical and laboratory findings in these patients.
Design: Cross-sectional study.
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) and serum levels ofreproductive hormones were evaluated. Multiplex PCR was done for detection ofY chromosome microdeletions. Diagnostic testicular biopsy was obtained from azoospennic men.
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-zoosperic men. Complete AZFc was the detected in 2.05% of azoospermic men. Partial AZFc 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
azoospennic men without deletions as regards testicular volume and serum levels of FSH, LH, testosterone and prolactin.
Conclusions: Microdeletions ofY chromosome may play a role in pathogenesis of non• obstructive azoospennia. The testicular volumes as well as levels of FSH, LH, testosterone and prolactin were not correlated with the finding of Y chromosome microdeletions.