AZFc partial deletions in Chilean men with severe spermatogenic failure.
OBJECTIVE
To determine the prevalence of AZFc subdeletions in infertile Chilean men with severe spermatogenic impairment.


METHODS
Prospective analysis.


METHODS
University infertility clinic.


METHODS
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).


METHODS
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).


METHODS
DAZ genes and AZFc subdeletion types.


RESULTS
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.


CONCLUSIONS
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.
Lardone
María C
MC
Institute of Maternal and Child Research, School of Medicine, University of Chile, Santiago, Chile.
Parodi
Daniela A
DA
Ebensperger
Mauricio
M
Peñaloza
Paulina
P
Cornejo
Valeria
V
Valdevenito
Raúl
R
Pommer
Ricardo
R
Castro
Andrea
A
D002677:Chile; D056426:Genetic Loci; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000175:diagnosis / Q000235:genetics*; D011446:Prospective Studies; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics*
D029589:Seminal Plasma Proteins