Open Access
Genetic and molecular diagnostics of male infertility in the clinical practice
Damiano Pizzol1,*,Alberto Ferlin1,Andrea Garolla1,Andrea Lenzi2,Alessandro Bertoldo1,Carlo Foresta1
Department of Medicine, Section of Endocrinology and Centre for Human Reproduction Pathology, University of Padua, Italy
Department of Experimental Medicine, University of Rome, La Sapienza, Italy
DOI: 10.2741/4208 Volume 19 Issue 2, pp.291-303
Published: 01 January 2014
(This article belongs to the Special Issue The post-genomic revolution in diagnostic pathology)
*Corresponding Author(s):  
Damiano Pizzol

Male infertility represents one of the clearest examples of complex phenotype with substantial genetic basis. It is indeed well established that genetic causes account for 10-15% of infertility cases, including chromosomal abnormalities and single-gene mutations. However, a large proportion of infertile males does not receive a clear diagnosis and thus they are reported as idiopathic or unexplained. Male (in)fertility is commonly based on standard semen analysis, which, however, cannot clearly distinguish fertile from infertile populations and therefore fails to detect any abnormality in many cases. Abnormal sperm function or specific molecular defects can be hypothesized in these cases. This review considers practical genetic and molecular diagnostic tests for male infertility, reporting on the most frequent genetic causes of male infertility and on the pros and cons of most commonly used techniques for genetic, molecular and functional sperm evaluation. Finally, this review will discuss recent advances in pharmacogenetics and new developments on sperm analysis that will form the basis for future research.

Key words

Molecular diagnostic, Genetic diagnostic, Male infertility, Review, Spermatogenesis, Review

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Damiano Pizzol, Alberto Ferlin, Andrea Garolla, Andrea Lenzi, Alessandro Bertoldo, Carlo Foresta. Genetic and molecular diagnostics of male infertility in the clinical practice. Frontiers in Bioscience-Landmark. 2014. 19(2); 291-303.