title: Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders.
abstract: The complex mechanisms are responsible for male sex determination and differentiation. The steps of formation of the testes are dependent on a series of Y-linked, X-linked and autosomal genes actions and interactions. After formation of testes the gonads secrete hormones, which are essential for the formation of the male genitalia. Hormones are transcription regulators, which function by specific receptors. Ambiguous genitalia are result of disruption of genetic interaction. This review describes the mechanisms, which lead to differentiation of male sex and ways by which the determination and differentiation may be interrupted by naturally occurring mutations, causing different syndromes and diseases.
authors.affiliation: Department of Biology, Kaunas University of Medicine, Kaunas, Lithuania. kucinskas@vision.kmu.lt
authors.forename: Laimutis
authors.initials: L
authors.lastname: Kucinskas
authors.forename: Walter
authors.initials: W
authors.lastname: Just
mesh_terms: D000293:Adolescent; D000328:Adult; D000728:Androgens / Q000096:biosynthesis / Q000502:physiology; D002872:Chromosome Deletion; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011247:Pregnancy; D019849:Sex Determination Processes; D012733:Sex Differentiation / Q000235:genetics / Q000502:physiology; D013735:Testicular Hormones / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology; D014158:Transcription, Genetic; D014770:Virilism / Q000235:genetics
chemical_list: D000728:Androgens; D013735:Testicular Hormones; D014157:Transcription Factors