hrp0086p1-p688 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation

Houang Muriel , Kottler Marie-Laure , Bensman Albert , Haymann Jean-Philippe , Richard Nicolas , Dunand Olivier , Bastepe Murate , Silve Caroline , Coudray Nathalie , Netchine Irene , Linglart Agnes

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...