Male infertility has often been ascribed to infections, immunologic fa
ctors, chemical insults or malformations. About 10% of infertile males
have severe defects in sperm production. Lately, research has focused
on possible genetic aetiologies. In this review genetic causes of mal
e infertility are discussed. For pragmatic reasons three groups have b
een defined. In the first group, disorders of sexual differentiation a
ssociated with male infertility are considered. In the second group, m
ale infertility is discussed in a context of some genetic diseases. In
the third group, genetic causes for isolated defects of sperm product
ion and function are reported.