Endocrine Abstracts

JOINT3405

Introduction: Wolfram syndrome is a rare autosomal recessive disorder that begins in childhood, characterized by symptoms such as type 1 diabetes, optic atrophy, hearing loss, and neurogenic bladder. In this case, a 22-year-old male patient with chronic renal failure, whose diabetes insipidus symptoms were masked, and whose diagnosis was delayed, is presented. The patient’s diagnosis, with multisystem involvement, was confirmed through genetic analysis.

Case: A 22-year-old male patient, diagnosed with diabetes since the age of 3, neurogenic bladder, bilateral sensorineural hearing loss, and chronic kidney failure for 6 years, presented to the emergency department due to the depletion of his home catheter. Upon finding a blood glucose level of 420 mg/dl, he was referred to the internal medicine clinic with a preliminary diagnosis of hyperglycemia. On physical examination, syndromic findings such as growth and developmental delay, bilateral hallux valgus, optic atrophy, and hearing loss were observed. Given the multisystemic symptoms, early-onset diabetes, and syndromic features, the patient, who was not considered to have polyuria due to chronic kidney disease, was initially suspected to have Wolfram Syndrome (DIDMOAD). However, the diagnosis was excluded due to the absence of diabetes insipidus symptoms. Other syndromic diabetes diagnoses such as MODY, mitochondrial genetic disorders, and Mauriac syndrome were also considered, but genetic tests yielded results incompatible with these conditions. Finally, after consultation with the Diabetes Research Excellence Center at the University of Exeter, genetic analysis revealed a homozygous WFS1 gene mutation, confirming the diagnosis of Wolfram Syndrome.

Discussion: This case highlights the challenges encountered in diagnosing Wolfram Syndrome. Wolfram syndrome is a rare disorder that begins with diabetes at an early age and presents with multisystemic effects. Atypical clinical courses can complicate the diagnostic process, and thus the entire spectrum of the disease should be considered, rather than just the classic triad. The masking of diabetes insipidus symptoms due to chronic kidney failure was a significant factor that delayed the diagnosis. Accelerating the genetic testing process is crucial for early diagnosis and disease management. A systematic evaluation of a patient who had been undiagnosed for a long period, along with consultation from an international center, led to the correct diagnosis. Early diagnosis of Wolfram Syndrome is vital for managing its progressive complications. Therefore, it is recommended that patients with early-onset diabetes and multisystemic findings undergo detailed genetic analysis.