The genetic basis of infertility in men

Subfertility in men is a heterogeneous syndrome, its pathophysiology remain ing unknown in the majority of affected men. A large number of genes and lo ci are associated with sterility in experimental animals, but the human hom ologues of most of these genes have not been characterized. A British study suggested that, in a large proportion of men with idiopathic infertility, the disorder is inherited as an autosomal recessive trait; this provocative hypothesis needs confirmation. Because normal germ cell development requir es the temporally and spatially co-ordinated expression of a number of gene products at the hypothalamic, pituitary and testicular levels, it is safe to predict that a large number of autosomal, as well as X- and Y-linked, ge nes will probably be implicated in different subsets of male subfertility.