Male infertility
Male infertility; Deletions in the AZFa, AZFb, AZFc and AZFd regions and DAZ locus
Overall 11.2% of men attending infertility clinics suffer from oligo- or azoospermia. The Y chromosome is an important carrier of genetic information in the control of spermatogenesis.
Microdeletions of Yq account for a significant proportion of men with infertility. Three nonoverlapping regions, referred to as “azoospermia factors” (AZFa, AZFb, AZFc and AZFd including DAZ gene from proximal to distal Yq) have been defined as spermatogenesis loci and deletions in these regions have been shown to be pathogenically involved in male infertility associated with azoospermia or severe oligospermia.
Deletions in the AZFa, AZFb and AZFc regions and DAZ locus on Y chromosome have been described in 52% of males azoospermia or severe oligospermia.
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