Endocrine Abstracts

JOINT2376

Wolfram syndrome is a rare disease characterized by constellation symptoms progressing from childhood to adulthood. These symptoms brought forth its other name DIDMOAD which comprises Diabetes insipidus, Diabetes mellitus, Optic atrophy, and deafness. It is a rare form of monogenic diabetes with an estimated prevalence of 1 in 770,000 in the United Kingdom, 1 in 100,000 in North America and 1 in 710,000 in the Japanese population. In this report, we describe a 26-year-old Filipina woman diagnosed with Type 1 diabetes and optic atrophy who consulted due to severe headache, fever, urinary frequency, and urgency. During her admission, she had symptoms of persistent thirst, polyuria, and nocturia. Further workup confirmed that she had urological abnormalities and Diabetes insipidus leading to the clinical diagnosis of Wolfram Syndrome. Genetic testing was then performed which showed that she had two pathogenic or disease-causing variants identified in the WFS1 gene. As healthcare providers, a high suspicion for Wolfram Syndrome should be a standard in patients who present with juvenile-onset diabetes mellitus and optic atrophy which are the primary symptoms of Wolfram Syndrome. Early recognition and diagnosis will guide us to the proper management and help improve the patient and their family’s quality of life. Although there is no known cure yet for Wolfram Syndrome, treatment of manifestations includes supportive care which is often provided by multidisciplinary specialists. The surveillance involves regular monitoring of existing manifestations, the response of an individual to supportive care, and the emergence of new manifestations.