Y chromosome microdeletions in azoospermic and oligozoospermic Tunisian men

Abstract Introduction In the present work, we aim to determine the frequency of Y microdeletions and to study the clinical and biological characteristics in idiopathic azoospermic and oligozoospermic men originating from the center of Tunisia. Methods A sample of 163 infertile men with normal karyotype was screened for Y chromosome microdeletion. This research was done by two multiplex PCR reactions. The multiplex A where STSs: Sy82 (AZFa), Sy134 (AZFb), Sy254 (AZFc) markers are amplified and the multiplex B where STSs: Sy81 (AZFa), Sy127 (AZFb), Sy255 (AZFc) markers are amplified. Results All patients had primary spermatogenic failure with normal or elevated plasma FSH level. AZF microdeletion was found in 14 patients (8.58%). The microdeletions affect AZFc in 9 cases, AZFa in one case, AZFb + c in two cases and AZFa + b + c in two cases. An epididymal obstruction is associated in five patients with Y chromosome microdeletion. Conclusion The incidence of Yq microdeletions in the studied population falls within the range published in other countries. Association between Yq microdeletions and epididymal abnormalities is frequent. Yq microdeletions are inherited when an intracytoplasmic spermatozoa injection (ICSI) is possible which justifies a genetic counseling consultation in order to inform couples about possible risks and to refer them to the most appropriate treatment.