Özet:

Abstract Wolfram syndrome is autosomal recessive dysmorphogenetical disease and it is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Patients demonstrate neurological abnormalities, psychological disorders and urinary tract abnormalities. The mutations of the Wolfram syndrome 1 gene, which encodes Wolframin are responsible for the majority of cases of Wolfram syndrome. With genetic analysis of patient with suspected features, the early diagnosis becomes an achievable reality. Early diagnosis and adequate hormonal supplementation can improve their quality of life. We report here, a 28-year-old woman with a medical history of tip 1 diabetes mellitus and bilateral hydronephrosis and poliuria and diagnosed Wolfram syndrome.