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J Endocrinol Invest. 2014 May;37(5):415-27. doi: 10.1007/s40618-014-0053-1. Epub 2014 Jan 24.

Relevance of genetic investigation in male infertility.

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Sezione di Endocrinologia, Andrologia e Medicina Interna, Dipartimento di Scienze Mediche e Pediatriche, Università di Catania, Policlinico "G. Rodolico," Bldg 4, Rm 2C18, Via S. Sofia 78, 95123, Catania, Italy.


Genetic causes can be directly responsible for various clinical conditions of male infertility and spermatogenic impairment. With the increased use of assisted reproduction technologies our understanding of genetic basis of male infertility has large implications not only for understanding the causes of infertility but also in determining the prognosis and management of such couples. For these reasons, the genetic investigations represent today an essential and useful tool in the treatment of male infertility. Several evidences are available for the clinical practice regarding the diagnosis; however, there are less information relative to the treatment of the genetic causes of male infertility. Focus of this review is to discuss the main and more common genetic causes of male infertility to better direct the genetics investigation in the treatment of spermatogenic impairment.

[Indexed for MEDLINE]

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