Detection of Gly-196-Ser mutation in 5alpha-reductase type II gene in a Brazilian patient with female assignment and behavior.
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.
Caldas Ferraz
L F
LF
Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), São Paulo, Brazil.
Guerra
G
G
Matias Baptista
M T
MT
Maciel-Guerra
A T
AT
Hackel
C
C
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*
D010088:Oxidoreductases; D042944:Cholestenone 5 alpha-Reductase