AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test

Genetic abnormalities, including partial deletions of the Y-chromosome, are commonly detectable in men with non-obstructive azoospermia (NOA), NOA can be treated using testicular sperm extraction (TESE) with intracytoplasmic sperm injection (ICSI). Recent studies have shown that the presence of dele tions involving the AZFc region do not appear to affect the chance of retri eving spermatozoa or have a significant impact on fertilization or pregnanc y rates with ICSI, We investigated the effect of Y-chromosome partial delet ions on the chance of sperm retrieval with TESE. Eighty attempts at sperm r etrieval were performed using TESE on men who were previously evaluated for Y-chromosome partial deletions. Y-chromosome analysis was performed using a polymerase chain reaction (PCR)-based technique with 35 sequence-tagged-s ites, Of the 80 men, nine (11%) had partial Y-chromosome deletions detected . Two azoospermic men with AZFc deletions had successful sperm retrieval, I CSI and a subsequent clinical pregnancy. Seven men had deletions involving the AZFb region (three men had isolated AZFb deletions, one had AZFa, AZFb, and AZFc deleted, and three had AZFb and AZFc deleted), None of the seven men had spermatozoa extracted by TESE, a result that is significantly diffe rent from the overall 64% (47/73) sperm retrieval rate achieved at our cent re (P = 0.001), Two men with AZFb deletions had cells consistent with round spermatids identified and injected into oocytes without effecting any norm al fertilizations. Although preliminary, these results suggest that the pre sence of an AZFb deletion is a significantly adverse prognostic finding for TESE, Men with AZFb deletions should be apprised of these results before a ttempting TESE-ICSI. Alternatives such as donor insemination or adoption sh ould be considered or therapy delayed until improved results with round spe rmatid injections are likely.