title: Detection of Gly-196-Ser mutation in 5alpha-reductase type II gene in a Brazilian patient with female assignment and behavior.
abstract: We describe the identification of a single base mutation in the 5alpha-reductase type II gene in a Brazilian patient who was reared as female and remained with female behavior and sexual identity.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), São Paulo, Brazil.
authors.forename: L F
authors.initials: LF
authors.lastname: Caldas Ferraz
authors.forename: G
authors.initials: G
authors.lastname: Guerra
authors.forename: M T
authors.initials: MT
authors.lastname: Matias Baptista
authors.forename: A T
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: C
authors.initials: C
authors.lastname: Hackel
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence / Q000235:genetics; D001519:Behavior; D042944:Cholestenone 5 alpha-Reductase; D012734:Disorders of Sex Development / Q000235:genetics* / Q000523:psychology*; D005260:Female; D005783:Gender Identity; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics*
chemical_list: D010088:Oxidoreductases; D042944:Cholestenone 5 alpha-Reductase