hrp0084fc6.5 | Gonads & DSD | ESPE2015

Characterisation of Mutations in the Androgen Receptor Identified in 38 Brazilian Families with Complete or Partial Androgen Insensitivity Syndrome

Batista Rafael Loch , Santi Andreza , Arnhold Ivo J P , Cunha Flavia S , Costa Elaine M F , Mendonca Berenince B , Domenice Sorahia

Background: Androgen insensitivity syndrome (AIS) is a genetic disease X-linked, caused by functional abnormalities of the androgen receptor (AR). Mutations in the AR are associated with broad phenotypic spectrum from partial insensibility (PAIS) to complete insensitivity (CAIS).Objective and hypotheses: To characterize the mutations (MUT) identified in the AR in 38 Brazilian families with AIS. The MUT were analyzed considering their type, location in th...