Searchable abstracts of presentations at key conferences in endocrinology

ea0081p399 | Pituitary and Neuroendocrinology | ECE2022

Familial neurohypophyseal diabetes insipidus: an extremely rare report of a family with a nonsense mutation in the arginine vasopressin gene

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...