• PMID: 17416365
• Gene Name: DAZ1
• Condition: Spermatogenic failure, Azoospermia, Oligozoospermia
• Association: 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.
• Mutation: AZFc subdeletions
• Population size: 172
• Population details: 172 (95 azo/oligozoospermic men without AZFc Y chromosome microdeletions: 71 whose testicular histology showed severe spermatogenic impairment and 24 who exhibited reduced testicular volume, 77 men (50 fertile and/or normozoospermic, and 27 with azoosperm
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenic failure, Azoospermia, Oligozoospermia

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