The infertility is a important health problem, affecting about 10-15% of couples. The important role of genetic factors in pathogenesis of infertility is now increasingly recognized and our knowledges in this field are improved each day. For these reasons we review the most important genetic causes of infertility. In this paper we analyse the genetic implications in central infertility (hypothalamic and pituitary). These conditions affect both sexes and are characterised by hypogonadotrophic hypogonadism. In majority of cases central infertility is produced by recessive mutations of hormone or hormonal receptor genes. In some cases the infertility is a component of a specific syndrome.