Daigo Kasamatsu, Etsuko Tanabe, Marie Okubo, Makiko Shimodaira, Yoshio Nakamura
{"title":"HTLV-1-associated uveitis mimicking thyroid-associated ophthalmopathy during antithyroid therapy: a diagnostic pitfall and management challenge.","authors":"Daigo Kasamatsu, Etsuko Tanabe, Marie Okubo, Makiko Shimodaira, Yoshio Nakamura","doi":"10.1530/EDM-25-0177","DOIUrl":"10.1530/EDM-25-0177","url":null,"abstract":"<p><strong>Summary: </strong>We report the case of a woman in her 70s, a known HTLV-1 carrier with recent-onset Graves' disease, who developed HTLV-1-associated uveitis (HAU) four weeks after the initiation of methimazole therapy. The diagnosis was established based on characteristic ophthalmologic findings and exclusion of other causes. Her uveitis resolved completely following local steroid injection; however, subsequent management of Graves' disease proved exceptionally challenging. Both methimazole and propylthiouracil eventually had to be discontinued because of safety concerns, including severe adverse reactions with propylthiouracil (granulocytopenia and hepatotoxicity), necessitating radioactive iodine therapy. During long-term follow-up, she developed Sjögren's syndrome, illustrating the risk of polyautoimmunity in HTLV-1 carriers. This case highlights a diagnostic pitfall: in HTLV-1-endemic areas, new-onset visual disturbances during antithyroid drug treatment should not automatically be attributed to thyroid-associated ophthalmopathy, and HAU should be included in the differential diagnosis. It also underscores the need for careful monitoring for drug-related complications and the emergence of additional autoimmune disorders in this population.</p><p><strong>Learning points: </strong>In HTLV-1 carriers, visual disturbances emerging shortly after the initiation of antithyroid drug therapy should not be automatically attributed to thyroid-associated ophthalmopathy; clinicians must differentiate HTLV-1-associated uveitis (HAU) to ensure appropriate management. Severe adverse reactions, including hepatotoxicity and granulocytopenia, can occur with antithyroid drugs, such as methimazole and propylthiouracil, and may arise sequentially, highlighting the significant therapeutic challenge and the necessity of careful monitoring in this population. HTLV-1 carriers diagnosed with one autoimmune disorder are at increased risk of developing polyautoimmunity, such as subsequent Sjögren's syndrome, necessitating comprehensive and long-term multisystem surveillance.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aisha Salem Alzahmi, Thoraia Awad Abdelrahman, Asif Moin, Hiba Drwesh, Mohammed Hassan Al Ali, Hessa Ebrahim Boharoon
{"title":"Radioiodine ablation in a haemodialysis-dependent patient with papillary thyroid carcinoma.","authors":"Aisha Salem Alzahmi, Thoraia Awad Abdelrahman, Asif Moin, Hiba Drwesh, Mohammed Hassan Al Ali, Hessa Ebrahim Boharoon","doi":"10.1530/EDM-25-0153","DOIUrl":"10.1530/EDM-25-0153","url":null,"abstract":"<p><strong>Summary: </strong>The management of differentiated thyroid cancer with radioactive iodine (RAI) in patients with end-stage renal disease (ESRD) on haemodialysis is particularly challenging because of impaired iodine clearance, prolonged radiation exposure and safety concerns for healthcare personnel. We present the case of a 54-year-old male on thrice-weekly maintenance haemodialysis who was incidentally diagnosed with papillary thyroid carcinoma during pre-transplant assessment. He underwent total thyroidectomy followed by adjuvant RAI ablation, planned on the basis of the available literature. A reduced dose of 50 mCi (1.85 GBq) was administered after stimulation with recombinant human TSH, and dialysis was scheduled at 48 h post-therapy to optimize uptake, with additional sessions on Days +3 and +6. Ablation was successful, with iodine-avid tissue seen on post-therapy imaging and no significant complications observed. This case demonstrates that with individualized dosing, tailored dialysis scheduling and multidisciplinary coordination, RAI ablation can be performed safely and effectively in patients with ESRD on haemodialysis, despite the absence of standardized guidelines.</p><p><strong>Learning points: </strong>A reduced radioactive iodine (RAI) dose can achieve successful ablation in dialysis-dependent patients, minimizing systemic radiation exposure and marrow toxicity without compromising efficacy. The timing of the first haemodialysis session after RAI administration is critical to ensure effective thyroidal ablation while minimizing radiation toxicity. There are no standardized guidelines for RAI ablation in end-stage renal disease (ESRD) patients on haemodialysis, necessitating case-by-case multidisciplinary planning.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antonio Ferreira, Thomas Züger, Marc Y Donath, Matthias Hepprich
{"title":"The power of lifestyle intervention to induce glycaemic control in a patient with newly diagnosed type 2 diabetes and HbA1c >10.","authors":"Antonio Ferreira, Thomas Züger, Marc Y Donath, Matthias Hepprich","doi":"10.1530/EDM-25-0188","DOIUrl":"10.1530/EDM-25-0188","url":null,"abstract":"<p><strong>Summary: </strong>We report a case of a 48-year-old man newly diagnosed with type 2 diabetes mellitus (T2DM), presenting with a critically elevated HbA1c of 10.3%, who achieved near-normal glycaemic control (HbA1c 6.0%) through a structured, three-month lifestyle intervention without initiation of any antidiabetic pharmacotherapy. The intervention entailed aerobic and resistance exercise, nutritional counselling, weekly coaching, and continuous activity monitoring. Notably, body weight remained constant (∼98.4 kg; BMI:31.8 kg/m2), while significant improvements occurred in body composition: -3.2 kg fat mass, -1.2 L visceral fat, +1.5 kg skeletal muscle, and -5 cm waist circumference. This case underscores the potential for non-pharmacological remission in patients with high baseline glycaemic dysregulation and supports early implementation of structured lifestyle programmes in clinical practice despite significantly elevated HbA1c.</p><p><strong>Learning points: </strong>Lifestyle interventions can be highly effective: structured modifications alone reduced HbA1c from 10.3 to 6.0%. Remission without pharmacotherapy: even patients with markedly elevated HbA1c may achieve remission through non-drug strategies. Improved body composition: a reduction in visceral fat and glucosuria and an increase in muscle mass resulted in stable weight. Support enhances adherence: regular monitoring and psychological coaching improved motivation and sustainability. Implications for practice: early structured programmes may reduce reliance on pharmacotherapy and improve healthcare sustainability.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rubén D Carrasco B, Alba Juanes, Carmen Marrón, Mariña Veras, M Soledad Librizzi, María Calatayud
{"title":"Pulmonary neuroendocrine tumour-associated ectopic Cushing's syndrome: diagnostic challenges and multidisciplinary management.","authors":"Rubén D Carrasco B, Alba Juanes, Carmen Marrón, Mariña Veras, M Soledad Librizzi, María Calatayud","doi":"10.1530/EDM-25-0166","DOIUrl":"10.1530/EDM-25-0166","url":null,"abstract":"<p><strong>Summary: </strong>Ectopic adrenocorticotropic hormone (ACTH) secretion is a rare cause of Cushing's syndrome (CS), often associated with neuroendocrine tumours (NETs). Early diagnosis can be difficult due to variable clinical manifestations and psychiatric symptoms that may obscure the underlying endocrine disorder. We report a case of severe ectopic ACTH-dependent Cushing's syndrome secondary to a pulmonary NET, highlighting the importance of multidisciplinary management, advanced imaging with positron emission tomography/computed tomography with gallium-68-labelled DOTA-D-Phe-Tyr-octreotide (68Ga-DOTATOC PET-CT) and aggressive biochemical control to enable curative surgery and full clinical recovery.</p><p><strong>Learning points: </strong>Ectopic ACTH secretion should be suspected in cases of severe, rapidly progressive hypercortisolism with marked hypokalaemia. Combined therapy with metyrapone and ketoconazole, along with hydrocortisone blockade and replacement, allows for rapid and safe cortisol control before surgery. 68Ga-DOTATOC PET-CT is essential for accurate localisation and staging of neuroendocrine tumours with ectopic ACTH production. Multidisciplinary management involving endocrinology, nuclear medicine, radiology, psychiatry, nutrition and thoracic surgery is crucial for successful outcomes. Early identification and aggressive management of metabolic and psychiatric complications are key to full recovery.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147532328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vasu Bansal, Sallam Alrosan, Sobrina S Mohammed, Hana Anan Hamdan, Shourya Tadisina
{"title":"A silent pheochromocytoma with regional metastasis and negative germline testing.","authors":"Vasu Bansal, Sallam Alrosan, Sobrina S Mohammed, Hana Anan Hamdan, Shourya Tadisina","doi":"10.1530/EDM-25-0124","DOIUrl":"10.1530/EDM-25-0124","url":null,"abstract":"<p><strong>Summary: </strong>Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors characterized by a universal potential for malignancy regardless of size or biochemical profile. While classic presentations involve paroxysmal hypertension, headaches, palpitations, and diaphoresis, an increasing proportion are detected incidentally through unrelated imaging. These 'silent tumors' often lack catecholamine-related symptoms and demonstrate absent or borderline biochemical abnormalities, signifying a substantial diagnostic challenge. Their indolent clinical profile may obscure malignant potential, leading to delayed intervention and missed opportunities for curative resection. We report a clinically and biochemically silent pheochromocytoma with regional lymph node metastasis, negative germline testing, and high-risk histopathologic features despite small tumor size and long-standing radiographic stability. This case illustrates that radiologic suspicion should prompt timely surgical management with appropriate perioperative blockade even in the absence of unequivocal biochemical confirmation. Lifelong surveillance remains essential with high-risk histology, irrespective of presentation.</p><p><strong>Learning points: </strong>Biochemical silence does not imply benign pathology. Pheochromocytomas without catecholamine excess can still exhibit malignant potential, thereby highlighting the need for comprehensive testing in all cases. Discordant testing requires integrative assessment. Equivocal biochemical results should not preclude further evaluation or empiric preoperative blockade, especially when imaging features or clinical context raises suspicion. Tumor size is an unreliable risk surrogate. Even small adrenal lesions may harbor aggressive histopathology; risk stratification must incorporate pathology and molecular profiling. Genetic testing is indispensable but not definitive. Comprehensive germline testing informs prognosis and surveillance, yet negative results do not eliminate the possibility of malignant behavior. Long-term surveillance remains essential. High-risk features mandate sustained biochemical and imaging follow-up, regardless of tumor size, biochemical phenotype, or genetic background.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147533354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hady M Gad, Ammar W Ashor, Waqar Ahmad, Ahmed Hanafy, Barkavi Dhakshinamoorthy, Wael Elsaify, Simon Ashwell
{"title":"Severe agranulocytosis in patient with Graves' disease on second exposure to carbimazole.","authors":"Hady M Gad, Ammar W Ashor, Waqar Ahmad, Ahmed Hanafy, Barkavi Dhakshinamoorthy, Wael Elsaify, Simon Ashwell","doi":"10.1530/EDM-25-0131","DOIUrl":"10.1530/EDM-25-0131","url":null,"abstract":"<p><strong>Summary: </strong>For half a century, antithyroid drugs (ATDs) have been the first-line treatment for Graves' disease. ATDs, e.g. carbimazole, are associated with minor and serious adverse effects. These include rash, urticaria, arthralgia, hepatotoxicity, vasculitis, and agranulocytosis. Agranulocytosis is a potentially serious adverse effect characterised by a neutrophil count <0.5 × 109 cells/L, which may deteriorate further into sepsis and death. This is a case report of a 47-year-old female who had a 17-year history of Graves' disease. She received carbimazole for 2 years, which was stopped after remission. She presented with relapsed thyrotoxicosis in 2025 when carbimazole (40 mg) was reinstituted. Three weeks later, the patient self-presented to the hospital with sore throat, painful swallowing, and sweating. Examination found oral ulceration, pharyngeal erythema, and tender cervical lymphadenopathy. She was admitted to the hospital and treated under the endocrinology team as agranulocytosis, carbimazole was stopped, and she was treated per local guidelines of neutropenic sepsis. After agranulocytosis was resolved, the patient underwent total thyroidectomy. Despite being well-tolerated, doctors and patients should be well aware of this potentially serious adverse effect of carbimazole.</p><p><strong>Learning points: </strong>Antithyroid drugs (ATDs) are rarely associated with agranulocytosis. ATD-induced agranulocytosis is regarded as a serious life-threatening emergency. The only option for the management of patients with Graves' disease-developed agranulocytosis is surgery. Educating the patients regarding the symptoms of agranulocytosis is vital for saving their life. ATD-induced agranulocytosis can happen long time after exposure or even after second exposure to these drugs.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052821/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147532513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sandhya Ramakrishna, Uma Visser, Marie Salib, Andrea Rita Horvath, Paul Bonnitcha
{"title":"Truly elevated PTH or Ulysses syndrome?","authors":"Sandhya Ramakrishna, Uma Visser, Marie Salib, Andrea Rita Horvath, Paul Bonnitcha","doi":"10.1530/EDM-25-0097","DOIUrl":"10.1530/EDM-25-0097","url":null,"abstract":"<p><strong>Summary: </strong>An 11-year-old girl presented to the emergency department with hypophosphataemia. Subsequent investigations repeatedly demonstrated elevated serum parathyroid hormone (PTH) associated with normal serum total calcium, phosphate, vitamin D, and bone turnover markers. Imaging studies were initially interpreted as being consistent with the effects of hyperparathyroidism; however, follow-up review by specialists with paediatric expertise concluded otherwise. Further laboratory studies ultimately demonstrated that there was a false elevation in PTH, determined to be due to interference in the PTH assay from the formation of macromolecular complexes. This case highlights the effects of a phenomenon known as 'Ulysses syndrome', whereby a patient is sent on an unnecessary journey of extensive diagnostic investigation conducted because of a false-positive result. Recognition of macromolecular complexes and antibody interferences in patients with PTH results that are discordant with the overall clinical picture and other biochemistry results may prevent this phenomenon, with all its psychological and financial consequences.</p><p><strong>Learning points: </strong>PTH results that are discordant with the clinical picture or other biochemistry results should be suspicious for assay interference. Macro-PTH complexes and other antibody interferences are rarely reported, although they are a potential cause of spuriously elevated PTH. Recognition of potentially spurious results early can reduce unnecessary investigations and prevent potential misdiagnosis.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13011794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"PPAR-α activator pemafibrate lowered plasma insulin-like growth factor-1 level in a patient with acromegaly.","authors":"Go Yoshimichi","doi":"10.1530/EDM-25-0134","DOIUrl":"10.1530/EDM-25-0134","url":null,"abstract":"<p><strong>Summary: </strong>This is a report of a patient with acromegaly that was ameliorated by pemafibrate, a peroxisome proliferator-activated receptor-α (PPAR-α) activator. Baseline acromegaly medication for this patient was lanreotide (90 mg/month). A marked reduction in insulin-like growth factor-1 levels was observed after initiating pemafibrate and remained during 12 months of follow-up. PPAR-α agonists might prove useful in pharmacotherapy for acromegaly.</p><p><strong>Learning points: </strong>Pemafibrate was effective for regulating dyslipidemia in the present case. A concomitant decrease in plasma IGF-1 levels was observed following initiation of pemafibrate treatment. Some in vitro studies have described beneficial effects of pemafibrate. Pemafibrate warrants investigation as a new treatment for acromegaly.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13010265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohd Shazwan Sharudin, Nur 'Aini Eddy Warman, Diana Katiman, Roqiah Fatmawati Abdul Kadir, Nur Aisyah Zainordin, Mimi Nashra Mohd Noh, Nor Amelia Mohd Fauzi
{"title":"Non-ketotic hyperglycaemic hemichorea as the first manifestation of undiagnosed diabetes mellitus in an elderly patient.","authors":"Mohd Shazwan Sharudin, Nur 'Aini Eddy Warman, Diana Katiman, Roqiah Fatmawati Abdul Kadir, Nur Aisyah Zainordin, Mimi Nashra Mohd Noh, Nor Amelia Mohd Fauzi","doi":"10.1530/EDM-25-0118","DOIUrl":"10.1530/EDM-25-0118","url":null,"abstract":"<p><strong>Summary: </strong>Non-ketotic hyperglycaemic hemichorea, also known as diabetic striatopathy (DS), is a rare but reversible hyperglycaemia-related movement disorder. It typically affects elderly patients and may occasionally represent the first manifestation of diabetes mellitus. The hallmark features include involuntary, unilateral choreiform or ballistic movements, with characteristic striatal neuroimaging changes. Early recognition is critical to avoid misdiagnosis and ensure timely intervention. We report a 78-year-old woman with a one-month history of progressive, involuntary right-sided limb movements, which subsided during sleep and severely impaired daily function. She had no prior diagnosis of diabetes but presented with osmotic symptoms for one year. Laboratory tests revealed hyperglycaemia (random blood glucose: 22 mmol/L; HbA1c: 15.9%) without ketosis. Neuroimaging demonstrated hyperdensity in the left caudate and lentiform nucleus on CT and corresponding T1-weighted hyperintensity with asymmetrical striatal atrophy on MRI, consistent with DS. Treatment with insulin, haloperidol, and tetrabenazine achieved a gradual symptomatic improvement, with a marked reduction in involuntary movements at three months, although resolution was protracted compared to the typical cases. This case underscores the importance of considering DS in elderly patients presenting with acute choreiform movements, even in the absence of known diabetes. Awareness of its clinical and radiological features is crucial to prevent misdiagnosis as cerebrovascular disease. While optimal glycaemic control remains the cornerstone of management, persistent or severe cases may require prolonged anti-chorea therapy, reflecting potential irreversible striatal injury.</p><p><strong>Learning points: </strong>DS can occur as the first manifestation of diabetes mellitus. Therefore, hyperglycaemia should be ruled out in patients presenting with chorea, even in the absence of known diabetes. MRI is more sensitive than CT scan in detecting abnormalities in DS, with a reported mismatch rate of 17.5%. However, there is no consistent correlation between the pattern of striatal involvement on the radiological imaging and the distribution of clinical symptoms. Some patients can achieve symptom resolution by glucose control alone. However, the majority require additional anti-chorea medications.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13010267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Autoimmune hyperthyroidism following haematopoietic stem cell transplant for multiple sclerosis in an adult female: a case report and literature review.","authors":"Amy Haeffner, Ali Azkoul, Sing Yang Sim","doi":"10.1530/EDM-25-0162","DOIUrl":"10.1530/EDM-25-0162","url":null,"abstract":"<p><strong>Summary: </strong>Haematopoietic stem cell transplant (HSCT) is a novel treatment utilised in a number of malignant and non-malignant conditions, with promising results in multiple sclerosis (MS), particularly in those not responding to previous disease-modifying therapies. There is existing evidence to suggest that HSCT has been linked to, in rare cases, autoimmune thyroid dysfunction. Much of the current literature highlights paediatric occurrences. The most common dysfunction noted is hypothyroidism, seen in 40% of cases, with other autoimmune thyroid dysfunctions reported less commonly. A 34-year-old female represents a unique case of autoimmune hyperthyroidism secondary to haematopoietic stem cell transplant completed for relapsing-remitting MS. One year following her HSCT, she presented with fatigue, brain fog, palpitations and tremors, and blood tests revealed thyrotoxicosis with elevated thyroid receptor antibody levels (TSH receptor antibodies). She was diagnosed with Graves' disease and treated with carbimazole and propranolol acutely; she is currently under regular endocrine follow-up. Ongoing multidisciplinary collaboration to holistically support her complex health needs continues, and a symptomatic improvement has been noted.</p><p><strong>Learning points: </strong>Secondary autoimmune diseases, such as Graves' disease, can develop in 2-14% of patients following autologous HSCT for MS. In our case, the timeline for development of Graves' disease post-HSCT is 10-12 months, which aligns with a previous reported case in the literature of between 8 and 32 months. Thyroid function test should be monitored regularly post-HSCT for MS as both autoimmune hyperthyroidism (Graves' disease) and hypothyroidism can develop. We aim to highlight to clinicians about this rare occurrence of Graves' disease post-HSCT.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12961266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147318320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}