• PMID: 17416365
• Gene Name: DAZ4
• Condition: Infertility
• Association: One case with gr/gr subdeletions (DAZ3/DAZ4 (r2/r4 subtype)) was found
• Mutation: gr/gr subdeletions
• Population size: 172
• Population details: 172 (71spermatogenic impairment, 24reduced testicular volume and elevated serum FSH levels, 77controls (50 fertile, 27 with azoospermia and normal spermatogenesis))
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DAZ1/DAZ2
• Other associated phenotypes: Azoospermia, Sertoli-cell-only syndrome

AZFc partial deletions in Chilean men with severe spermatogenic failure

Lardone MC, Parodi DA, Ebensperger M, Peñaloza P, Cornejo V, Valdevenito R, Pommer R, Castro A.

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), 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. FAU - Lardone, María C AU - Lardone MC AD - Institute of Maternal and Child Research, School of Medicine, University of Chile, Santiago, Chile. FAU - Parodi, Daniela A AU - Parodi DA FAU - Ebensperger, Mauricio AU - Ebensperger M FAU - Peñaloza, Paulina AU - Peñaloza P FAU - Cornejo, Valeria AU - Cornejo V FAU - Valdevenito, Raúl AU - Valdevenito R FAU - Pommer, Ricardo AU - Pommer R