Endocrine Abstracts

JOINT3745

Wolfram syndrome (WS) is a rare autosomal recessive disorder (ORPHA:3463, OMIM# 222300) caused by mutations in the WFS1 genes (Wolfram syndrome type 1 = WS1) or CISD2 genes (Wolfram syndrome type 2 = WS2), with a global prevalence of less than 1 in 1 000 000. These patients often present with diabetes mellitus, diabetes insipidus, optic atrophy, and sensorineural deafness (DIDMOAD). In addition, abnormal urinary tract function or neuropsychiatric disorders could be observed. An Autosomal Dominant Wolfram-like syndrome with similar clinical features, caused by heterozygous mutations of the WFS1 gene, is also reported. We report two patients with Wolfram syndrome, diagnosed more than 10 years after the onset of diabetes mellitus. First patient is a 14-year old boy with diabetes mellitus, bronchial asthma and optic atrophy, genetically proven for WS1. Second patient is 16-year old girl with diabetes mellitus, diabetes insipidus, epilepsy and severe urological abnormalities, suspected for WS. Multiple systemic organ involvement with different and highly heterogeneous clinical features makes WS a diagnostic challenge. Early genetic testing could confirm the diagnosis and improve individual therapeutic approach and outcomes for patients.