Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep405 | Diabetes (to include epidemiology, pathophysiology) | ECE2016

A novel E108D mutation of AVP-NPII gene in a Turkish patient with central diabetes insipidus

Ozcan Merve , Karaduman Tugce , Saglar Emel , Erdem Beril , Deniz Ferhat , Yonem Arif , Baskoy Kamil , Ahmet Ay Seyit , Oflaz Ofcan , Mergen Hatice

Familial central or neurohypophyseal diabetes insipidus (FNDI) results from insufficient production of antidiuretic hormone arginine vasopressin, which is caused by mutations in arginine vasopressin-neurophysin II gene (AVP-NPII). In this study, we present the clinical features of a male Turkish patient with autosomal dominant neurohypophyseal DI caused by a novel mutation (p.E108D). The prospective clinical data were collected for the proband patient and his family members. T...