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This version published online on January 9, 2007
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2006-1981
A more recent version of this article appeared on March 1, 2007
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Submitted on September 8, 2006
Accepted on December 28, 2006

Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a ten year experience in Italy

Alberto Ferlin, Barbara Arredi, Elena Speltra, Carla Cazzadore, Riccardo Selice, Andrea Garolla, Andrea Lenzi, and Carlo Foresta*

Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy (AF, BA, ES, CC, RS, AG, CF); Department of Medical Pathophysiology, University of Rome "La Sapienza", Rome, Italy (AL)

* To whom correspondence should be addressed. E-mail: carlo.foresta{at}unipd.it.

Context An explosive growth in Y chromosome long arm (Yq) microdeletion testing demand for male infertility occurred in the last few years. However, despite the progresses in the biology of this chromosome, a number of molecular and clinical concerns are not supported by definitive data.

Objective To provide information on the type and prevalence of microdeletions in infertile males, indication for testing, genotype-phenotype correlation, sperm aneuploidies and genetic counseling.

Design Prospective study from January 1996 to December 2005.

Setting Academic clinic.

Patients 3073 consecutive infertile men, of which 625 affected by non obstructive azoospermia and 1372 by severe oligozoospermia. 99 patients with microdeletions are here described.

Interventions None.

Main outcome measures Yq microdeletions, seminal analysis, reproductive hormones, testicular cytology/histology, sperm sex chromosomes aneuploidies.

Results The prevalence of microdeletions was 3.2% in unselected infertile men, 8.3% in men with non obstructive azoospermia and 5.5% in men with severe oligozoospermia. Only 2/99 deletions were found in men with >2 million sperm/ml. No clinical data is useful to identify a priori patients with higher risk of Yq microdeletions. Most deletions are of the AZFc-b2/b4 subtype and are associated with variable spermatogenic phenotype with sperm present in 72% of the cases. Complete AZFa and AZFb (P5/Proximal P1) deletions are associated with Sertoli cell-only syndrome and alterations in spermatocyte maturation respectively, whereas partial deletions in these regions are associated with milder phenotype and frequent presence of sperm. Men with AZFc-b2/b4 deletions produce a higher percentage of sperm with nullisomy for the sex chromosomes and XY-disomy.

Conclusions This extensive clinical research expands the knowledge on genotype-phenotype relationship and confirm that the identification of Yq microdeletions have significant diagnostic and prognostic value, adding useful information for genetic counseling in these patients.
Key words: AZF • male infertility • microdeletions • spermatogenesis • Y chromosome




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