title: Syndromal (and nonsyndromal) forms of male pseudohermaphroditism.
abstract: The term sex determination refers to the genetic events that bring about male or female gonadal development; sex differentiation to all subsequent morphogenetic and physiological events that establish functional sexuality, sexual dimorphism and the secondary sexual characteristics. Virtually all of the steps of sex differentiation are under genetic control; consequently each one of them can fail as result of mutation of the corresponding genes. We shall be concerned with those genes and their mutations that cause pseudohermaphroditism in males and more rarely in females (with the exception of congenital adrenal hyperplasia). Special emphasis will be placed on Swyer, Denys-Drash, RSH, GBBB, campomelic and ATR-X syndromes, whose genes were recently identified.
authors.affiliation: Istituto di Genetica Medica, Universitá Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome 00168, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Neri
authors.forename: J
authors.initials: J
authors.lastname: Opitz
mesh_terms: D000818:Animals; D004265:DNA Helicases; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000145:classification / Q000209:etiology / Q000235:genetics*; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007313:Insecta; D008297:Male; D008322:Mammals; D009687:Nuclear Proteins; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics; D019849:Sex Determination Processes; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D000075924:X-linked Nuclear Protein
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein