hrp0084p2-440 | Gonads | ESPE2015
Fernandez Maria Sanz
, Arnao Maria Dolores Rodriguez
, Sanchez Amparo Rodriguez
, de Leon Esther Gonzalez Ruiz
, Cancio Monica Fernandez
, Parera Laura Audi
Background: Androgen insensitivity syndrome in its complete form (CAIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriated normal concentrations of androgens. Pathogenesis is the result of mutations in the x-linked androgen receptor (AR) gene, which encodes for the ligand-activated AR. We report the clinical, biochemical and molecular features of two affected sisters in whom a nove...