Do we need to search for gr/gr deletions in infertile men in a clinical setting?
BACKGROUND
Partial deletions of the AZFc region of the Y chromosome such as gr/gr deletions have been detected in infertile patients as well as in control groups. The impact of these gr/gr deletions on the etiology of male infertility remains unknown. In the present study, we investigated the presence of gr/gr deletions in Caucasian men.


METHODS
gr/gr deletions were analyzed by using markers sY1291, sY1191 and sY1197 and by investigating the presence of single nucleotide variants (SNV) in DAZ and CDY1 genes in patients with azoospermia (n = 44), cryptozoospermia (n = 51) or severe oligozoospermia (n = 92). Control groups consisted of men with normal spermatogenesis on testicular biopsy (n = 33), normozoospermia (n = 278) or proven fertility (n = 83).


RESULTS
We observed 20 gr/gr deletions, with eight in infertile patients (4.3%) and 12 in the control groups (3.0%), which was not significantly different. DAZ SNV analysis revealed eight different deletion patterns in patients and controls.


CONCLUSIONS
In the present study, no significant differences in the frequency of gr/gr deletions between different patient and control groups were observed. We concluded that the relationship between gr/gr deletions and male infertility remains unclear and that it is too early to systematically test for gr/gr deletions for infertile couples seeking assisted reproduction treatment.
Stouffs
Katrien
K
Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium. katrien.stouffs@uzbrussel.be
Tournaye
Herman
H
Van der Elst
Josiane
J
Haentjens
Patrick
P
Liebaers
Inge
I
Lissens
Willy
W
D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D029589:Seminal Plasma Proteins / Q000235:genetics*; D054331:Sertoli Cell-Only Syndrome / Q000235:genetics; D044465:White People
C118459:CDY1 protein, human; D009687:Nuclear Proteins; D029589:Seminal Plasma Proteins