Incidence of AZF (azoospermia factor) deletions and familial forms of infertility among patients requiring intracytoplasmic spermatozoa injection (ICSI).

PURPOSE: The aim of our study was to determine the incidence of AZF deletions and familial forms of infertility suggesting autosomal mutations among patients requiring intracytoplasmic sperm injection with ejaculated sperm.
METHODS: Cases with obstructive pathologies were excluded; 81 patients were classified according to the numeration of spermatozoa. The distribution was as follows: 10 cases with normal numeration (greater than 20 million/ml) (group 1), 10 cases with between 10 and 20 million/ml (group 2), 6 cases with between 5 and 10 million/ml (group 3), 15 cases with between 1 and 5 million/ml (group 4), 29 cases with less than 1 million/ml (group 5), and 11 azoospermic patients (group 6). The infertility of 11 of the 81 patients might be explained by testicular ectopy.
RESULTS: We found two deletions limited to the AZFc region among our 81 infertile patients--one deletion in group 5 and one deletion in group 4 (both groups of oligozoospermic patients)--and no deletion in the groups with normal or subnormal numerations. We found six familial forms of infertility. We did not find any AZF deletion, neither in these 6 patients nor in the 11 with testicular ectopy. The identification of these families of infertile men will allow research of autosomal genes involved in male infertilities.
CONCLUSIONS: It is important to test deletions of the AZFc region for oligozoospermic patients, and familial forms of infertility do not seem to concern the same individuals.