AZFc partial deletions in Chilean men with severe spermatogenic failure

Abstract

Objective: To determine the prevalence of AZFc subdeletions in infertile Chilean men with severe spermatogenic impairment. Design: Prospective analysis. Setting: University 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),