ea0081p399 | Pituitary and Neuroendocrinology | ECE2022
Ramalho Diogo
, Serra-Caetano Joana
, Cardoso Rita
, Rosinha Patricia
, Filipa Araujo Barbara
, Rua Ines
, Rodrigues Orlando
, Dinis Isabel
, Mirante Alice
Introduction: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare form of central diabetes insipidus (CDI) characterized by childhood-onset progressive polydipsia and polyuria due to mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene.Case description: Two male siblings were referred at 1 month of age to exclude CDI owing to a family history of CDI in the father and paternal grandfather. The proband was the fa...