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Abstract
Functional disturbances of the human genome caused by the presence of chromosomal aberrations, gene mutations or polymorphic variants, as well as through the dysfunction of epigenetic factors regulating the expression of individual genes, may cause male infertility or childlessness. The effect of each causative factor is manifested at various stages of human development ranging from the male gamete through spermatogenesis and spermiogenesis, disorders of which cause azoospermia or oligozoospermia, up to the occurrence of developmental disorders in the prenatal and postnatal period of progeny, including lethality. The diagnostic process of male infertility at present should include the evaluation of chromosomal aberrations in the karyotype, Yq microdeletions, mutations of genes associated with rare genetic disorders involving infertility in their symptomatology, in connection with epigenetic disorders.