Y-chromosome microdeletion and its effect on reproductive decisions in Taiwanese patients presenting with nonobstructive azoospermia

Objectives. To investigate the position, extent, and frequency of Y chromos ome microdeletions in Taiwanese patients presenting with nonobstructive azo ospermia, and to investigate the effect of microdeletions on reproductive d ecisions. Methods. We studied 176 consecutive men with azoospermia in our urology cli nic. Polymerase chain reaction tests were performed in 94 patients with non obstructive azoospermia, and a series of 27 sequence-tagged sites (STSs) ma pped within intervals 5 and 6 of Yq11 was selected for analysis. Clinical g enetics counseling was provided to couples with microdeletions, and these c ouples made their own choices about further treatment modalities. Results, Among 94 patients screened for microdeletion, 11 (11.7%) showed mi crodeletions of one or more STSs. One had a deletion confined to the azoosp ermia factor b (AZFb) region (encompassing the RBM gene). Two were found to have deletions of both the AZFb and AZFc regions. Eight patients had delet ions in the AZFc region (encompassing the DAZ gene). Five had deletions dis tal to the DAZ gene family. One had multiple, noncontiguous deletions. in 8 patients with testicular histology available, a lack of genotype/ phenotyp e correlation was noted. Of the 11 couples with deletions, 5 thought microd eletion was a serious defect and opted for an artificial insemination of do nor or adoption, 5 chose intracytoplasmic sperm injection, and the other 3 decided to undergo treatment with Chinese medicinal herbs. Conclusions. The most commonly deleted region in the Taiwanese population i s AZFc. The genes implicated in Taiwanese spermatogenesis defects are the D AZ and RBM gene families. Twenty-seven percent of couples with microdeletio ns deferred assisted reproductive technologies because of concern about the ir underlying genetic defects. UROLOGY 56: 1041-1046, 2000. (C) 2000, Elsev ier Science Inc.