Detection of Gly-196-Ser mutation in 5alpha-reductase type II gene in a Brazilian patient with female assignment and behavior

L F Caldas Ferraz; G Guerra Jr; M T Matias Baptista; A T Maciel-Guerra; C Hackel

doi:10.1515/jpem.1998.11.3.465

Detection of Gly-196-Ser mutation in 5alpha-reductase type II gene in a Brazilian patient with female assignment and behavior

J Pediatr Endocrinol Metab. 1998;11(3):465-6. doi: 10.1515/jpem.1998.11.3.465.

Authors

L F Caldas Ferraz¹, G Guerra Jr, M T Matias Baptista, A T Maciel-Guerra, C Hackel

Affiliation

¹ Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), São Paulo, Brazil.

PMID: 11517964
DOI: 10.1515/jpem.1998.11.3.465

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Amino Acid Sequence / genetics
Behavior*
Cholestenone 5 alpha-Reductase
Disorders of Sex Development / genetics*
Disorders of Sex Development / psychology*
Female
Gender Identity*
Humans
Male
Mutation / genetics*
Oxidoreductases / genetics*

Substances

Oxidoreductases
Cholestenone 5 alpha-Reductase