hrp0092p1-97 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Familial Neurohypophyseal Diabetes Insipidus and 2 Novel Vasopressin Gene Mutations in 13 Italian Kindreds.

Patti Giuseppa , Scianguetta Saverio , Balsamo Antonio , Cappa Marco , Corbetta Sabrina , Gaudino Rossella , Iughetti Lorenzo , Salerno Maria Carolina , Napoli Flavia , Peri Alessandro , Maghnie Mohamad , Perrotta Silverio , Di Iorgi Natascia

Background: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is characterized by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII genePatients and Methods: We analyzed AVP-NPII gene in 13 kindreds with familial NDIAim: To describe the clinical and molecular features of Italian kindreds with adNDIResults</str...