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Guillaume Pierman Department of Endocrinology, CHU UCL Namur, Yvoir, Belgium

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Yves Vandermeeren Department of Neurology, CHU UCL Namur, Yvoir, Belgium

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Corinne Jonas Department of Endocrinology, CHU UCL Namur, Yvoir, Belgium

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Etienne Delgrange Department of Endocrinology, CHU UCL Namur, Yvoir, Belgium

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Summary

Moyamoya syndrome (MMS) refers to a rare cerebrovascular disorder characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches, leading to an increased risk of stroke. While prevalent in Asia, this condition is considerably less common in Western countries, including Europe. The association between MMS and Graves’ disease (GD) has been well documented, primarily in Asian and American populations, notably Latin Americans. In this report, we report the first case of GD with MMS in a Caucasian woman from Western Europe. The precise mechanisms underpinning the correlation between these two conditions remain poorly elucidated but are hypothesized to involve hemodynamic alterations, the toxic effects of anti-thyroid-stimulating hormone receptor antibodies, or a shared genetic predisposition. Our clinical case underscores the significance of thyroid disease screening in suspected MMS cases, as the management of thyroid dysfunction may suffice to improve neurological symptoms.

Learning points

  • The association between Graves’ disease (GD) and Moyamoya syndrome (MMS) can manifest in a Caucasian European patient.

  • Screening for thyroid disease is essential when MMS is suspected, as treating GD might effectively alleviate neurological symptoms.

  • The mechanisms linking GD and MMS remain incompletely understood but may involve hemodynamic shifts, the toxic effect of anti-TSH receptor antibodies, or shared genetic factors.

Open access
Cristian Petolicchio Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

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Sara Brasili Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

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Stefano Gay Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Francesco Cocchiara Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Irene Campi Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Luca Persani Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Lara Vera Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Diego Ferone Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy
Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Federico Gatto Endocrinology Unit, Department of Internal Medicine and Medical Specialties (DiMI), University of Genova, Genoa, Italy

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Summary

The resistance to thyroid hormone syndrome (RTHβ) occurs uncommonly and requires a high level of clinical suspicion and specific investigations to reach a precise diagnosis and to avoid unnecessary and potentially harmful therapies. We report a case of a young male patient referred to our unit for SARS-CoV-2 infection and atrial fibrillation with elevated thyroid hormones and non-suppressed thyroid-stimulating hormone (TSH), for which antithyroid therapy was prescribed. A mood disorder was reported in the medical history. The family history was unknown as the patient was adopted. Thyroid-specific antibodies were undetectable, and thyroid ultrasound revealed a normal thyroid gland without nodules. After the resolution of SARS-CoV-2 infection, the diagnostic workup continued, and the pituitary MRI revealed a small area ascribable to a microadenoma. Due to atrial fibrillation, the execution of the T3 test was contraindicated. The octreotide long-acting release (LAR) test showed an initial reduction of free thyroid hormones levels at first administration, which was consistent with the presence of a TSH-secreting pituitary tumour, although an escape from the response was observed after the following two injections of octreotide LAR. Indeed, the genetic investigation revealed a variant in heterozygosity of the THRβ gene (Pro453Ser), thus leading to an RTHβ diagnosis, and, therefore, medical treatment with triiodothyroacetic acid was initiated. After 2 years from the SARS-CoV-2 infection, the patient continues the follow-up at our outpatient clinic, and no other medical interventions are needed.

Learning points

  • RTHβ is a rare genetic syndrome characterised by discrepant thyroid function tests and by a dissociation between the observed hormone levels and the expected patient signs and symptoms.

  • Features of thyroid hormone deficiency in TR-ß dependent tissues (pituitary gland, hypothalamus, liver and neurosensitive epithelia), as well as thyroid hormone excess in TR-α-dependent tissues (heart, bone, skeletal muscle and brain), may coexist in the same individual.

  • Clinical pictures can be different even when the same variant occurs, suggesting that other genetic and/or epigenetic factors may play a role in determining the patient’s phenotype.

  • Differentiating RTHβ from a TSH-secreting pituitary tumour is very difficult, especially when a concomitant pituitary adenoma is detected during diagnostic workup. The injection of long-acting somatostatin analogues can help differentiate the two conditions, but it is important to detect any interference in the dosage of thyroid hormones to avoid an incorrect diagnosis.

  • Genetic testing is fundamental to prevent unnecessary and potentially harmful therapies.

  • Medical treatment with triiodothyroacetic acid was demonstrated to be effective in reducing thyroid hormone excess and controlling symptoms.

Open access
R K Dharmaputra Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Gold Coast Hospital and Health Service, Gold Coast, Cairns, Queensland, Australia

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C M Piesse Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia

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S Chaubey Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia

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A K Sinha Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia

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H C Chiam Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Surgery, Cairns Hospital, Cairns, Queensland, Australia

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Summary

A 48-year-old Asian male, presented to the hospital for an elective total thyroidectomy in the context of 6.3 cm thyroid nodule. The fine needle aspiration cytology of the nodule confirmed papillary thyroid cancer (PTC) with some atypical histiocytes. He has a history of idiopathic arginine vasopressin deficiency (AVP-D) and has been taking oral DDAVP 100 µg daily, self-adjusting the dose based on thirst and polyuria. Additionally, he also has a history of recurrent spontaneous pneumothorax. His total thyroidectomy was aborted due to significant intraoperative bleeding, and his admission was further complicated by post-operative hyponatraemic seizure. Thyroid histology revealed the diagnosis of Langerhans cell histiocytosis (LCH), and further investigation with contrast CT demonstrated multi-organ involvement of the thyroid, lungs, and bones.

Learning points

  • Langerhans cell histiocytosis (LCH) is a condition that can affect one or more organ systems, including the pituitary, where it can present as AVP deficiency. Strict monitoring of fluid balance, as well as serial monitoring of serum sodium, is essential in all patients with AVP-D in the perioperative setting.

  • Iatrogenic hyponatraemic seizure is an uncommon but serious complication of DDAVP treatment in hospitalised patients with AVP-D. DDAVP dosing must be carefully monitored.

  • LCH with multisystem involvement is an important mimic for metastatic conditions, and histological diagnosis is essential to guide treatment and prognosis.

  • Although LCH without bone marrow involvement is unlikely to increase the risk of bleeding, its effect on tissue integrity may make surgery more challenging.

  • BRAF-V600E mutation is an important driver mutation and a potential therapeutic target in the treatment of LCH.

Open access
Yu Arai Department of Family & General Medicine, Tokyo-Kita Medical Center, Japan

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Satoru Okada Department of Family & General Medicine, Tokyo-Kita Medical Center, Japan

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Taiju Miyagami Department of General Medicine, Faculty of Medicine, Juntendo University, Tokyo, Japan

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Narumi Sue Department of Family & General Medicine, Tokyo-Kita Medical Center, Japan

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Chisato Kainaga Department of Family & General Medicine, Tokyo-Kita Medical Center, Japan

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Summary

Myxoedema coma is a severe form of hypothyroidism with multiple organ dysfunction, characterised by an altered state of consciousness and hypothermia. Intravenous thyroid hormone replacement therapy is the preferred treatment for myxoedema. The mortality rate associated with this disease is high, and early detection and intervention are essential. Supraglottal myxoedema is a rare form of periglottic oedema and can be fatal. A previously healthy 66-year-old man presented with impaired consciousness, hypothermia, and nonpitting oedema. Blood tests revealed the presence of hypothyroidism and respiratory acidosis. He was intubated for type 2 respiratory failure; however, severe laryngeal oedema made the procedure difficult to perform. Oral thyroid hormone therapy was initiated under the diagnosis of myxoedema coma. Tracheostomy was performed because of prolonged type 2 respiratory failure and laryngeal oedema. Three weeks after admission, the patient was weaned off the ventilator. Approximately a week later, laryngeal oedema improved, and the tracheostomy tube was removed. The patient was discharged and remained stable for 3 months. This case report describes a patient with comatose myxoedema and supraglottic oedema who was successfully treated with oral medication alone. This case shows that supraglottic oedema should be considered even in the absence of wheezing or other signs of upper airway obstruction.

Learning points

  • Myxoedema coma is a differential diagnosis of respiratory acidosis.

  • In myxoedematous coma, the possibility of difficult intubation due to supraglottic oedema should be considered.

  • Tracheostomy should be considered for supraglottic myxoedema, which often results in prolonged ventilator use.

  • Supraglottic myxoedema can be treated with oral medications.