Screening of Y chromosome microdeletions in Tunisian infertile men.

Abstract

The aim of this study was to establish the prevalence of Y chromosomal microdeletions in infertile Tunisian men. Three groups of infertile men, 65 normospermic, 53 oligozoospermic and 45 azoospermic, were tested for Yq microdeletions detection by multiplex polymerase chain reaction (PCR) using specific Y chromosome AZF regions tagged site markers (STS). One group of 13 healthy men was used as the control group. Six STS were tested (2 in each AZF region). The general prevalence of AZF microdeletions was 16%; in azoospermia and severe oligospermia groups, it was higher (29% and 30.5%, respectively). Significant differences were found with moderate oligospermic and normospermic groups (p < 0,05). AZFc microdeletions were the most frequent, and 55% of AZFc deleted patients were oligospermic. No deletions were detected in the control group. These results add to the growing literature data, showing that microdeletions of the Y chromosome is an important cause of severe spermatogenetic defect and confirm that deletion in AZFc region is the most common and is compatible with residual spermatogenesis.