REVIEW – September 2008

Genetics of male infertility


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Genetic causes account for approximately 10-15% of male infertility. In addition to known genetic causes such as abnormalities of the number, structure and dislocation of autosomal and sex chromosomes, a large number of genes and gene variations affecting the reproductive system have been identified. However, their role in the pathogenesis of male infertility is still unclear. Genetic studies performed so far have found no conclusive association  between male infertility and specifi c gene variations. However, the area of genetic studies is continuously growing. New genetic knowledge will introduce new genetic markers in clinical medicine wich would facilitate the diagnosis of male infertility. The aim of the current study was to give a brief review of the genetic background of male infertility and to introduce some of the genes and gene variants related to the problem.