Partial AZFc deletions in infertile men with cryptorchidism

BACKGROUND: A specific type of partial AZFc deletion, called 'gr/gr' deletion, was recently proposed as genetic risk factor for spermatogenic impairment and testis cancer. Since both pathologies can be part of the testicular dysgenesis syndrome (TDS), we aimed to define the role of 'gr/gr' deletion in the aethiopathogenesis of another component of the TDS: cryptorchidism. METHODS: A total of 146 cryptorchid and 140 infertile patients without a history of cryptorchidism were screened with a sequence tagged site plus/minus method and further confirmed and characterized by CDY1/DAZ gene dosage and copy analysis. RESULTS: The observed deletion frequency was 4.2% in cryptorchid and 5% in non-cryptorchid patients. Moreover, no differences in the CDY1/DAZ patterns were observed among the two groups. A significant difference in deletion frequency was present only when cryptorchid patients were compared with normospermic controls (P < 0.03). CONCLUSIONS: Our data show no relationship between 'gr/gr' deletion and cryptorchidism, however, provide further evidence of the deleterious effect of the 'gr/gr' deletion on spermatogenesis. The screening for 'gr/gr' deletion may therefore be proposed before ICSI to all patients with severe male factor infertility, without the exclusion of those with cryptrochidism, since this genetic risk factor for spermatogenic impairment will be transmitted to the male offspring.