hrp0084p3-1111 | Pituitary | ESPE2015

AVP-NPII Gene Mutations and Clinical Characteristics of the Patients with Autosomal Dominant Familial Central Diabetes Insipidus

Turkkahraman Doga , Saglar Emel , Karaduman Tugce , Mergen Hatice

Background: Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin–neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.Objective and hypotheses: To determine clinical and molecular characteristics of patients with familial central DI from two different families.Method: The diagnosi...