8656 A Case of Wolfram Syndrome Accompanied by Growth Hormone Deficiency

Abstract Disclosure: H. Jung: None. G. Kim: None. Y. Park: None. J. Yu: None. Background: This case report explores the presentation, diagnosis, and multidisciplinary management of an 11-year-old female patient with Wolfram syndrome, a rare and progressive genetic disorder. Wolfram syndrome is a rare genetic disorder characterized by early-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. The prevalence of this syndrome is very low, affecting approximately 1 in 770,000 individuals. Prompt diagnosis is essential as early intervention and comprehensive management can improve the patient's quality of life and prognosis. Clinical Case: A female patient aged 9 years and 2 months was brought to our Pediatric Endocrinology Clinic because an elevated blood sugar level (520 mg/dL) was detected during a routine health checkup. She was born at 40 weeks, weighing 3kg, and had no remarkable perinatal history except for cleft lip. At the time of admission due to diabetes mellitus, the patient showed symptoms of developmental delay, language impairment, short stature, and strabismus. During follow-up over 1 year with management of diabetes mellitus, she showed persistent short stature and poor growth velocity. She underwent a growth hormone (GH) stimulation test, which confirmed GH deficiency. Further investigation found optic atrophy through ophthalmological examination and genetic investigation based on whole exome sequencing revealed a homozygous mutation in WFS1 (c.1475C>T, p.Pro492Leu), suggesting Wolfram syndrome. Pure tone audiometry did not reveal specific abnormality but there were some limitations in the interpretation of the study result due to language and communication difficulties. She also showed nocturia, and in the absence of glycosuria, the urine specific gravity was less than 1.005, suggesting diabetes insipidus. She is currently receiving multidisciplinary treatment including pediatrics, otolaryngology, and ophthalmology. Conclusion: This case underscores the importance of increasing clinical awareness regarding Wolfram syndrome, as early intervention through timely diagnosis may lead to improved patient outcomes. This case also suggests that although GH deficiency is uncommon in Wolfram syndrome, growth assessment is important in patients with Wolfram syndrome in addition to managing diabetes mellitus and diabetes insipidus. Presentation: 6/2/2024