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 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 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-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 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.