Human Genetics

, Volume 124, Issue 4, pp 399–410 | Cite as

Partial AZFc deletions and duplications: clinical correlates in the Italian population

  • Claudia Giachini
  • Ilaria Laface
  • Elena Guarducci
  • Giancarlo Balercia
  • Gianni Forti
  • Csilla KrauszEmail author
Original Investigation


The role of partial AZFc deletions of the Y chromosome in spermatogenic impairment is currently debated. Recently, it was also reported that duplications of the same region are associated with oligozoospermia in Han-Chinese men. The aims of this study were (1) to evaluate the clinical significance of partial AZFc deletions in a large study population and (2) to define if partial AZFc duplications are a risk factor for spermatogenic failure also in a Caucasian population such as the Italian. We screened 556 infertile patients and 487 normozoospermic controls for partial AZFc deletions with a combined method based on STS+/− followed by CDY1-DAZ gene dosage and copy analysis. For the second aim, we performed CDY1-DAZ gene dosage in 229 infertile patients and 263 normozoospermic controls. The frequency of gr/gr deletions in patients was significantly different from the controls (3.2 vs. 0.4%, respectively; P < 0.001), with an OR = 7.9 (95% CI 1.8–33.8). b2/b3 deletions were rare in both groups (0.5% in patients, 0.2% in controls). Concerning gr/gr duplications, we observed no significant differences in their frequency between cases (2.6%) and controls (3.8%). This is the largest study population in the literature in which all potential methodological and selection biases were carefully avoided to detect the clinical significance of partial AZFc deletions and duplications. Our study provides strong evidence that gr/gr deletion is a risk factor for impaired spermatogenesis, whereas we did not detect a significant effect of b2/b3 deletions and partial AZFc duplications on spermatogenesis in this Caucasian ethnic group.


Varicocele Infertile Patient AZFc Deletion AZFc Region Deletion Carrier 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We are grateful to Chris Tyler-Smith and Yali Xue for the Y hgr analysis of the partial AZFc deleted samples and for the discussion of results, and Mike Mitchell for providing us with the data on the Y hgr distribution in a subset of controls and patients and for his help in the validation of the gene dosage analysis. We thank the Italian Ministry of Education and Research (MIUR) for the grant PRIN 2008–2010 to C.K. and the financial support of Telethon-Italy (grant no. GGP08204; to C.K.). We thank all the clinicians who participated in the recruitment of the patients from the Andrology Unit of Florence (Head: Prof. M. Maggi). We thank Eddi Buldrigone, Francesca Nuti and Selene Degl’Innocenti for helpful assistance and discussions.

Supplementary material

439_2008_561_MOESM1_ESM.doc (41 kb)
Supplementary Table 1 List of case–control associations studies dealing with gr/gr deletions. “Exclusion criterias” stated by the authors are reported for each publication (DOC 41 kb)


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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Claudia Giachini
    • 1
  • Ilaria Laface
    • 1
  • Elena Guarducci
    • 1
  • Giancarlo Balercia
    • 2
  • Gianni Forti
    • 1
  • Csilla Krausz
    • 1
    Email author
  1. 1.Andrology Unit, Department of Clinical PhysiopathologyUniversity of FlorenceFirenzeItaly
  2. 2.Division of EndocrinologyInstitute of Internal Medicine, Polytechnic University of MarcheAnconaItaly

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