ea0022p263 | Developmental endocrinology | ECE2010
Corbetta Sabrina
, Marina Muzza
, Laura Avagliano
, Gaetano Bulfamante
, Luigi Gaetti
, Cristina Eller-Vainicher
, Paolo Beck-Peccoz
, Anna Spada
Androgens, by signaling through the androgen receptor (AR), mediate a wide range of male developmental processes. Complete androgen insensitivity syndrome (CAIS), a X-linked disorder caused by AR gene mutations, represents an in vivo model to study the role of androgens in sexual development. Here, we reported a case with CAIS at 20 weeks of gestational age harbouring a novel AR missense mutation (D767V), which was predicted to prevent androgen binding and...