Article
[Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor].
Arquivos brasileiros de endocrinologia e metabologia - 1 Feb 2005
Corrêa Rafaela V, Wey João C, Billerbeck Ana E C, Melo Karla F S, Mendonça Berenice B, Wey Marta V, Arnhold Ivo J P
Abstract excerpt
Androgen insensitivity syndrome (AIS) is a rare X-linked disorder, caused by mutations in the androgen receptor gene (AR), associated with a variety of phenotypes in 46,XY individuals. We studied two 23 year-old twin-sisters with female social sex referred due to primary amenorrhea, who exhibited bilateral palpable gonads in the inguinal region and a 46,XY karyotype. The uterus was absent in pelvic sonograms....
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