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