DBY and CDY1 Genes Status in Idiopathic Male Infertility in Gaza Strip

Abstract

Idiopathic male infertility is often associated with genetic and epigenetic abnormalities. There is evidence that 60% of the cases of male infertility have underlying genetic causes. Partial deletion in the Y chromosome AZFa and AZFc regions, represented by deletion of DBY1/2 and CDY1a/b genes, respectively, are responsible for some cases of idiopathic male infertility. In the current cross sectional study, 30 fertile males and 81 patients with primary idiopathic male infertility were recruited in order to investigate the occurrence of DBY1/2 and CDY1a/b deletions employing PCR along with gene-specific primers. The study also examined the relation between the hormonal status of the patients and their spermatogenic potential. Only one azoospermic patient out of 81 infertile males (1.23%), harbored DBY2 gene deletion and no CDY1 gene deletion was detected indicating the scarcity of such deletions in our population. Genetic background and Y chromosome haplogroups are key factors in such deletions. The study also showed that the hormonal status of the patients does not predict their spermatogenic potential. In conclusion, the occurrence of partial deletion, albeit at low frequency, warrants introducing gene-specific testing prior to employment of assisted reproduction techniques, since the classical Y-microdeletion analysis may miss specific gene deletions. Further work is needed in order to identify the underlying causes of idiopathic male infertility in Gaza strip.