• PMID: 18326516
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study concludes that o significant differences in the frequency of gr/gr deletions between different patient and control groups were observed. It also states that relationship between gr/gr deletions and male infertility remains unclear and that it is
• Mutation: gr/gr deletion
• Population size: 581
• Population details: 187 infertile (44 non-obstructive azoospermia, 51 cryptozoospermia, 92 oligozoospermia), 394 control( 33 men for normal spermatogenesis, 278 normozoospermia, 83 proven fertility)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: CDY1
• Other associated phenotypes: Azoospermia, cryptozoospermia, oligozoospermia

Do we need to search for gr/gr deletions in infertile men in a clinical setting?

Stouffs K, Tournaye H, Van der Elst J, Haentjens P, Liebaers I, Lissens W.

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. FAU - Stouffs, Katrien AU - Stouffs K AD - Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium. katrien.stouffs@uzbrussel.be FAU - Tournaye, Herman AU - Tournaye H FAU - Van der Elst, Josiane AU - Van der Elst J FAU - Haentjens, Patrick AU - Haentjens P FAU - Liebaers, Inge AU - Liebaers I