Genetic Diagnosis in Non-Obstructive Azoospermic Tunisian Men

Purpose: Male infertility is the cause in half of all childless partnerships. Numerous factors contribute to male infertility, including chromosomal aberration and Yq microdeletions. We therefore aimed to evaluate the prevalence of genetic abnormalities among non-obstructive azoospermic (NOA) Tunisian men referred for routine cytogenetic analysis to the department of cytogenetics of the Pasteur institute of Tunis. Methods: Karyotype analyses were performed on peripheral blood lymphocytes using R-banding for 401 NOA. Molecular diagnosis of classic Yq microdeletions was performed in 90 NOA with normal karyotypes by two multiplex PCRs using six STS markers (Sequence-Tagged Site) recommended by the EAA/EMQN (European Academy of Andrology / the European Molecular Genetics Quality Network). Results: The overall incidence of chromosomal abnormalities was 12.22% (49/401). Out of the 49 patients with abnormal cytogenetic findings, sex chromosome abnormalities were observed in 42 (85.71%) including Klinefelter syndrome in 37 (75.5%). Structure chromosome abnormalities involving autosomes (14.28%) and sex chromosomes (2.04%) were detected in 8 infertile men. Furthermore, the Yq microdeletions were seen in two patients (2.22%). Both had complete deletion of the AZFc region. Conclusion: The occurrence of chromosome anomalies and Yq microdeletions among NOA men strongly suggests genetic testing and counseling prior to employment of assisted reproduction techniques in Tunisia.