Endocrine Abstracts

JOINT2762

Introduction: Graves disease is an autoimmune disease characterized by hyperthyroidism due to circulating thyroid-stimulating autoantibodies that bind to and activate thyrotropin receptors, causing the hyperplasia and hyperfunction of thyroid gland. The symptoms are wide ranging as thyroid hormone affects many body systems. The disease is common in people with age below than 40 and mainly in women. Graves disease is caused by a combination of genetic and environmental factors while genetics being the main cause. Genetic predisposition to Graves ‘ disease is caused by multiple genes. Wolfram Syndrome is a rare autosomal recessive progressive neurodegenerative disorder with estimated prevalence of 1 in 500,000 r, also known as DIDMOAD syndrome for its four most common features (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness). Patients present with nonautoimmune and non-HLA linked diabetes mellitus associated with optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, renal tract abnormalities early in the third decade and multiple neurological abnormalities early in the fourth decade. In the literature available, we did not find a description of the combination of Graves’ disease and DIDMOAD syndrome.

Case report: An 8 years old boy was diagnosed with type 1 diabetes with ketosis on presentation and treated with insulin. However, upon diabetes compensation polydipsia and polyuria continued and the following week diabetes insipidus was diagnosed. MRI of the brain was only significant for posterior arachnoid cyst 1.5x2.5x1.7 cm between the cerebellar hemispheres. Genetic analysis for Wolfram syndrome was not available at that time, therefore patient underwent annual optic nerve funduscopy, audiometry and ultrasound of the urinary tract. After 5 years, he developed hearing loss and early signs of macular atrophy, as well as ureteral dilation. Finally, genetic analysis was done abroad and WFS1 gene mutation was identified.

Conclusion: Apparently, this is one of the first descriptions of the combination of Graves disease and DIDMOAD syndrome in the world literature and definitely the first in Armenia. Taking into account that in some countries genetic analysis for Wolfran Syndrome may not be readily available, annual survey for all the components of the syndrome is recommended. This is especially important in atypical and fast progressing cases of Wolfram syndrome.