Abstract
Male infertility represents a complex phenotype with a substantial genetic basis. Standard semen analysis cannot clearly distinguish fertile from infertile populations and a large proportion of infertile males does not receive a clear diagnosis. In this chapter, we explore known genetic causes of male infertility, from chromosomal abnormalities to single-gene mutations identifiable in the DNA by the blood sample of the affected patient. Furthermore, we report on the important advances in the identification of novel genetic and epigenetic markers involved in the male fertilizing potential of human spermatozoa. These molecular and functional sperm evaluations could be translated into clinical practice in the near future.
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