AZFc partial deletions in Chilean men with severe spermatogenic failure

ObjectiveTo determine the prevalence of AZFc subdeletions in infertile Chilean men with severe spermatogenic impairment.DesignProspective analysis.SettingUniversity infertility clinic.Patient(s)Ninety-five secretory azo/oligozoospermic men without AZFc Y chromosome microdeletions: 71 whose testicular histology showed severe spermatogenic impairment and 24 who exhibited reduced testicular volume and elevated serum FSH levels. As controls, we studied 77 men (50 fertile and/or normozoospermic, and 27 with azoospermia and normal spermatogenesis).Intervention(s)Peripheral blood was drawn to obtain genomic DNA for polymerase chain reaction (PCR) digestion assays of DAZ-sequence nucleotide variants and for AZFc-STS PCR after a complete testicular characterization (biopsy, hormonal, and physical evaluation).Main Outcome Measure(s)DAZ genes and AZFc subdeletion types.Result(s)In cases we observed two “gr/gr” subdeletions (2.1%), one with absence of DAZ1/DAZ2 (g1/g2 subtype), and the other with absence of DAZ3/DAZ4 (r2/r4 subtype). Additionally, we found a g1/g3 subdeletion in a patient with Sertoli-cell-only syndrome. In controls, we observed two gr/gr subdeletions with absence of DAZ1/DAZ2 (2.6%) in a fertile/normozoospermic and in an obstructive azoospermic man.Conclusion(s)AZFc subdeletions do not seem to cause severe impairment of spermatogenesis. Moreover, gr/gr-DAZ1/DAZ2 subdeletions do not appear to affect fertility in Chilean men.