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Chi-Ta Hsieh Department of Internal Medicine, Tungs’ Taichung MetroHarbor Hospital, Taichung, Taiwan

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Jui-Ting Yu Division of Hematology and Medical Oncology, Department of Internal Medicine, Tungs’ Taichung MetroHarbor Hospital, Taichung, Taiwan

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Tang-Yi Tsao Department of Internal Medicine, Tungs’ Taichung MetroHarbor Hospital, Taichung, Taiwan
Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan

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Yao Hsien Tseng Department of Internal Medicine, Tungs’ Taichung MetroHarbor Hospital, Taichung, Taiwan
Division of Endocrinology and Metabolism, Department of Internal Medicine, Tungs' Taichung MetroHarbor Hospital, Taichung, Taiwan
Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan

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Summary

A 69-year-old woman presented with weight loss, fever, dizziness, exertional dyspnea, and drenching night sweats. Imaging showed a thyroid goiter at the left lobe that measured 5.6 × 3.4 × 3.5 cm in size. On computed tomography, she was found to have large adrenal masses. Core needle biopsy of the left thyroid mass revealed the presence of a mucosa-associated lymphoid tissue extranodal marginal zone B cell lymphoma. Non-Hodgkin’s lymphomas (NHL) typically develop in lymph nodes or other lymphatic tissues. There have been cases where the thyroid has been affected, and the secondary involvement of the adrenal gland is common. In reported cases, 7–59% of patients with NHL exhibited symptoms of thyroid dysfunction. Our patient presented no symptoms of thyroid dysfunction or Hashimoto’s thyroiditis. The patient had bilateral adrenal lymphomas that led to adrenal insufficiency. Immunochemotherapy provided a good response in this case, as seen by the rapid improvement in thyroid and adrenal mass on follow-up PET/CT.

Learning points

  • Thyroid lymphoma requires a high index of suspicion for diagnosis in patients with a rapidly growing thyroid tumor, even in the absence of chronic inflammatory thyroid disease.

  • Depending on the extent of involvement, adrenal lymphoma may rapidly cause adrenal insufficiency.

  • In the setting of acute illness, appropriate levels of plasma cortisol are often unclear, necessitating early initiation of glucocorticoid therapy based on clinical suspicion, especially when features like bilateral adrenal masses and elevated ACTH levels are present.

  • Treatment modalities include chemotherapy and radiation therapy for localized lesions, together with hormone replacement for organ dysfunction.

  • The origin of the tumor influences the clinical outcome of patients with lymphoma simultaneously involving the thyroid and adrenal glands.

Open access
Vahab Fatourechi Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA

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Amy A Swanson Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

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Robert A Lee Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA

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Summary

We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and dissection, and a variation in the MYH11 gene. Because of considerable tumor bulk in the neck that was not resectable, the patient underwent partial resection at age 14 years. Since then, the patient has received only suppressive thyroid hormone therapy. He is now 71 years old, which is 57 years after the initial resection. The patient received care at our institution from July 2009 to August 2019, during which we documented the stability of multiple calcified masses in the neck. Follow-up examinations at another institution from September 2019 to April 2023 also confirmed the stability of the masses. The underlying cause of this unusually long indolent course of the disease is unclear. Whether extensive tumor calcifications or the MYH11 sequence variation contributed to the disease course is also uncertain.

Learning points

  • Papillary thyroid cancer with neck metastases may, in some cases, be stable and remain asymptomatic for decades.

  • If locoregional stability of papillary thyroid cancer is documented for many years, observation may be preferable to extensive neck surgery in selected cases.

  • This is the first report of an MYH11 gene alteration and thoracic aortic aneurysm in a patient with papillary thyroid cancer with indolent neck metastases.

  • Future studies of MYH11 gene alterations in thyroid carcinoma are needed.

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.

Open access
Isabella Chiardi Thyroid Unit of Clinic for Endocrinology and Diabetology, Lugano Regional Hospital, Ente Ospedaliero Cantonale, Bellinzona, Switzerland
Faculty of Medicine and Surgery, Humanitas University, Rozzano, Milan, Italy

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Priska Gaffuri Istituto Cantonale di Patologia, Ente Ospedaliero Cantonale, Bellinzona, Switzerland

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Andrea Leoncini Servizio di Radiologia e Radiologia Interventistica, Istituto di Imaging Della Svizzera Italiana (IIMSI), Ente Ospedaliero Cantonale, Bellinzona, Switzerland

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Pierpaolo Trimboli Thyroid Unit of Clinic for Endocrinology and Diabetology, Lugano Regional Hospital, Ente Ospedaliero Cantonale, Bellinzona, Switzerland
Faculty of Biomedical Sciences, Università della Svizzera Italiana (USI), Lugano, Switzerland

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Summary

Thyroid metastases from nonthyroidal malignancies (NTMs) represent a diagnostic challenge, often displaying heterogeneous clinical manifestations. These metastases are rare but significant, accounting for approximately 2% of thyroid malignancies. Distinguishing them from primary thyroid malignancies is challenging due to the lack of specific ultrasound features, and the ultrasound-based risk stratification systems offer limited utility in such cases. Fine needle aspiration cytology is crucial for definitive diagnosis, yet it may not always provide accurate results. In this case report, we describe a unique instance of thyroid metastases originating from renal cell carcinoma, emphasizing the complexities in diagnosis and the importance of considering oncological conditions when assessing thyroid masses. Awareness of thyroid metastasis from NTMs, particularly in cases of diffuse thyroid hypoechogenicity and hypothyroidism, is essential for clinicians in their diagnostic approach.

Learning points

  • Thyroid metastases from nonthyroidal malignancies are diagnostic challenges due to their heterogeneous clinical presentations, often mimicking primary thyroid malignancies.

  • Thyroid metastases from nonthyroidal malignancies are relatively rare, but they still account for approximately 2% of thyroid malignancies.

  • It is fundamental to consider oncological conditions when assessing thyroid masses, especially in cases of diffuse thyroid hypoechogenicity, hypothyroidism, and history of other tumors.

  • Thyroid presentation is quite similar to that of autoimmune hypothyroidism, endocrinologists must be aware of the possibility of thyroid hypofunction due to the massive invasion of the parenchyma.

Open access
John J Orrego Department of Endocrinology and Metabolism, Kaiser Foundation Health Plan of Colorado, Denver, Colorado, USA

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Joseph A Chorny Department of Pathology, Kaiser Foundation Health Plan of Colorado, Denver, Colorado, USA

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Summary

Unlike medullary thyroid carcinomas, follicular cell-derived thyroid malignancies have rarely been associated with paraneoplastic endocrine syndromes. An ultrarare case of a middle-aged man with heavily treated broadly metastatic radioactive iodine-refractory widely invasive Hürthle cell carcinoma (HCC) of the thyroid with two synchronous paraneoplastic endocrine syndromes, T3 thyrotoxicosis and hypercalcemia of malignancy, is discussed here. The levothyroxine-induced T3 thyrotoxicosis was a gradual process that became more noticeable as the tumor burden, refractory to different modalities of therapy, expanded. The 1,25-dihydroxyvitamin-D-mediated hypercalcemia, on the other hand, developed in a manner of weeks, as it usually happens. It is important to emphasize that in patients with metastatic Hürthle cell and follicular carcinomas of the thyroid, on TSH suppressive therapy, the unexplained and progressive decline in FT4 and rise in FT3 levels, resulting in an elevated FT4/FT3 ratio, could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from the prohormone T4 into the active metabolite T3 via outer ring deiodination.

Learning points

  • Albeit extremely rare, some patients with thyroid cancer can present with more than one concomitant paraneoplastic syndrome.

  • Although medullary thyroid carcinoma is the thyroid malignancy that is usually associated with paraneoplastic endocrine syndromes, follicular cell-derived thyroid cancers have been rarely described as being the culprit.

  • In patients with metastatic Hürthle cell and follicular thyroid carcinomas, the unexplained and progressive decline in FT4 and rise in FT3 levels could be an indication of augmented type 1 (D1) and/or type 2 (D2) deiodinase expression in tumoral tissue, causing an increased conversion from T4 into T3 leading to T3 thyrotoxicosis.

Open access
Omayma Elshafie Department of Endocrinology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Oman

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Anjali Jain Department of Nuclear Medicine, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Oman

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Summit Bichpuria Department of Radiology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Oman

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Yamina Rassou Department of Pathology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Oman

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Syed Furqan Hashmi Department of Radiation Oncology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Oman

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Abir Bou Khalil Department of Endocrinology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Oman

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Summary

A 60-year-old woman presented to our clinic with an acute onset 3 months history of right ankle pain. The patient had a history of poorly differentiated thyroid cancer, which was treated with total thyroidectomy, left lateral neck dissection levels II–V and central neck dissection levels VI–VII followed by postoperative I-131 radioactive iodine (131I) ablation therapy 3.7 GBq 6 months ago. The post-131I WBS showed residual iodine-avid thyroid tissue with no other iodine-avid disease or metastasis. SPECT/CT of the neck and chest showed nonavid bilateral pulmonary nodules, discrete nodal masses in mediastinum and nonavid bone lesions. FDG-PET CT scan showed FDG-avid mediastinal lymph nodes (LN), innumerable non-FDG-avid subcentimetric pulmonary nodules and few FDG-avid lytic lesions in the skeleton. X-ray and MRI of the right ankle showed a well-marginated lytic lesion in the posterior body of calcaneus and 5 × 6 cm soft tissue mass lesion, respectively. The histopathology of the calcaneus mass confirmed a positive immunostaining for thyroid origin which includes thyroglobulin and TTF-1 with PAX-8. Endobronchial mediastinal and bronchial LN biopsy confirmed thyroid cancer metastasis. Gene mutation showed HRAS and GNA13 with a high tumor mutational burden. We describe a rare case of poorly differentiated thyroid cancer in a patient who presented with right ankle pain; we confirmed the cause to be a calcaneus metastasis from the thyroid cancer, with calcaneus being an extremely rare site for bone metastases. Gene mutations points toward treatment with immune checkpoint inhibitors.

Learning points

  • Poorly differentiated thyroid carcinoma (PDTC) usually metastasizes to lung and bone but can rarely occur in the calcaneus.

  • Patients with distant metastases have significantly worse long-term prognosis.

  • Radiotherapy is effective in reducing the metastatic pains as well as reducing the size of the metastasis.

  • PAX-8 staining can be used to differentiate thyroid carcinomas from lung adenocarcinomas.

  • The importance of searching for gene mutations to decide the treatment of PDTC.

Open access
Isabelle van Heeswijk Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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Antonia Ugur Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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Lynsey Havill Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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Rebecca Kinton Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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David Hughes Department of Endocrinology, University Hospitals Derby & Burton NHS Trust, Derby, UK

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Summary

Calciphylaxis is a rare disorder characterised by the development of painful necrotic skin lesions. Occlusion of cutaneous arterioles due to ectopic calcification leads to potentially life-threatening widespread skin loss. Most cases occur in patients with chronic renal disease, which leads to dysregulation of calcium and phosphate homeostasis. Only a handful of case reports exist describing calciphylaxis occurring in patients without chronic renal disease but with hypoparathyroidism. We report on a unique case of a 53-year-old man with multiple endocrine neoplasia type 1 syndrome and acquired hypoparathyroidism due to total parathyroidectomy who went on to develop calciphylaxis following cardiac surgery.

Learning points

  • Calciphylaxis most commonly occurs in the context of chronic renal disease but can rarely occur in its absence as a consequence of calcium and phosphate dysregulation.

  • Patients who develop necrotic skin lesions in the presence of hypoparathyroidism require an urgent dermatological opinion.

  • Mortality from calciphylaxis is high, with the majority of deaths occurring secondary to sepsis.

  • Management of calciphylaxis requires a multidisciplinary team approach to manage wound healing, infections and pain.

  • Recovery with full rehabilitation from calciphylaxis can take months to years.

Open access
Jasmine Van de Kerkhof Department of ENT, H&N Surgery, General Hospital Sint-Jan, Bruges, Belgium

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Jacqueline Bijnens Department of ENT, H&N Surgery, General Hospital Sint-Jan, Bruges, Belgium

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Frank De Geeter Department of Nuclear Medicine, General Hospital Sint-Jan, Bruges, Belgium

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Catherine Dick Department of ENT, H&N Surgery, General Hospital Sint-Jan, Bruges, Belgium

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