Background: Deletions of the AZFb region on the long arm of the human Y chromosome cause male infertility. However, the reciprocal products of these deletion events, AZFb duplications, have not been reported to date. Furthermore, it is not known whether potential AZFb duplications represent a risk factor for spermatogenic failure.
Methods: A total of 150 patients with male idiopathic subfertility (79 non-obstructive azoospermics and 71 oligozoospermics) and 150 fertile men were analysed for deletion/duplication of the sY125 locus and of the JARID1D gene using real-time PCR.
Results: Three azoospermic men had deletion of the sY125 locus and of the JARID1D gene. No duplication was detected.
Conclusions: In our limited sample, AZFb duplications do not appear to be associated with male infertility.