Article
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
Clinical genetics - 1 Mar 2004
Hooper H T, Figueiredo B C, Pavan-Senn C C, De Lacerda L, Sandrini R, Mengarelli J K, Japp K, Karaviti L P
Abstract excerpt
A 14-year-old female presented to the Pediatric Endocrine Clinic, Universidade Federal o Parana Curitiba, Brazil, for obesity. A few years later, despite normal breast development, the patient had failed to menstruate and lacked pubic and axillary hair. Laboratory analyses revealed high levels of testosterone. Karyotype analysis was XY. Direct sequencing of her genomic DNA showed a G to T transition at nucleotide...
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