ea0063oc7.4 | Endocrine Connections 1 | ECE2019
Romanet Pauline
, Philibert Pascal
, Fina Frederic
, Cuny Thomas
, Reynaud Rachel
, Paris Francoise
, Barlier Anne
Context: Postzygotic activating mutations in GNAS are responsive for fibrous dysplasia (FD) and McCune-Albright Syndrome (MAS). MAS is a rare disease associating fibrous dysplasia, to skin pigmentation and endocrine disorders. The classic genetic non-invasive methods are insufficiently sensitive to detect GNAS mutation, due to a low level of mosaicism in blood. Early diagnostic should allow a follow-up and a therapeutic choice adapted to the MAS context in or...