Patient Demographics > Ethnicity

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Vivi-Nelli Mäkinen Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Internal Medicine, Regional Hospital, Horsens, Denmark

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Stine Horskær Madsen Department of Pathology, Aarhus University Hospital, Aarhus, Denmark

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Mette Ji Riis-Vestergaard Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Internal Medicine, Gødstrup Hospital, Herning,Denmark

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Mette Bjerre Department of Clinical Medicine, Aarhus University, Aarhus University Hospital, Aarhus, Denmark

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Steen Bønløkke Pedersen Steno Diabetes Center Aarhus, Aarhus University Hospital, Aarhus, Denmark

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Sylvia L Asa Department of Pathology, University Health Network, Toronto,Canada

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Lars Rolighed Department of Otorhinolaryngology, Head and Neck Surgery, Aarhus University Hospital, Aarhus, Denmark

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Jens Otto Lunde Jørgensen Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus University Hospital, Aarhus, Denmark

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Marie Juul Ornstrup Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark

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Summary

This case report describes a rare presentation of ectopic Cushing’s syndrome (CS) due to ectopic corticotropin-releasing hormone (CRH) production from a medullary thyroid carcinoma (MTC). The patient, a 69-year-old man, presented with symptoms of muscle weakness, facial plethora, and easy bruising. An inferior petrosal sinus sampling test (IPSS) demonstrated pituitary adrenocorticotrophic hormone (ACTH) secretion, but a whole-body somatostatin receptor scintigraphy (68Ga-DOTATOC PET/CT) revealed enhanced uptake in the right thyroid lobe which, in addition to a grossly elevated serum calcitonin level, was indicative of an MTC. A 18F-DOPA PET/CT scan supported the diagnosis, and histology confirmed the presence of MTC with perinodal growth and regional lymph node metastasis. On immunohistochemical analysis, the tumor cell stained positively for calcitonin and CRH but negatively for ACTH. Distinctly elevated plasma CRH levels were documented. The patient therefore underwent thyroidectomy and bilateral adrenalectomy. This case shows that CS caused by ectopic CRH secretion may masquerade as CS due to a false positive IPSS test. It also highlights the importance of considering rare causes of CS when diagnostic test results are ambiguous.

Learning points

  • Medullary thyroid carcinoma may secrete CRH and cause ectopic CS.

  • Ectopic CRH secretion entails a rare pitfall of inferior petrosal sinus sampling yielding a false positive test.

  • Plasma CRH measurements can be useful in selected cases.

Open access
Joanna Chrzanowska Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases for Children and Adolescents, Wrocław Medical University, Poland

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Monika Seifert Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases for Children and Adolescents, Wrocław Medical University, Poland

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Barbara Salmonowicz Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases for Children and Adolescents, Wrocław Medical University, Poland

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Agnieszka Zubkiewicz-Kucharska Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases for Children and Adolescents, Wrocław Medical University, Poland

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Summary

The etiology of foot drop is diverse from various diseases to mechanic injuries and includes neuropathy of the peroneal nerve. Peroneal neuropathy might also be one of the forms of diabetic neuropathy, very rarely reported as the first sign of diabetes. We describe three cases of children with newly diagnosed type 1 diabetes (TID) who developed unilateral peroneal nerve palsies and tibial nerve palsies, presenting clinically as a foot drop. In two of our cases, the symptoms of foot drop occurred shortly after starting treatment for severe diabetes ketoacidosis. In the third patient, food drop was a reason for the initial medical consultation, but eventually, TID was diagnosed. The presented cases highlight that neuropathy can be observed not only as a chronic complication of T1D, but it can also appear at the time of disease manifestation. The incorrect position of the lower limb during a keto coma may contribute to the development of neuropathy.

Learning points

  • Neuropathy can be observed not only as a chronic complication of type 1 diabetes (T1D), but it can also appear at the time of disease manifestation.

  • The incorrect position of the lower limb causing external pressure during a keto coma may contribute to the development of neuropathy.

  • It is important to examine the glycemia in patients with acute peroneal neuropathy, as this kind of peripheral neuropathy can be associated with newly diagnosed T1D. Normalization of glycemia might lead to rapid neuronal recovery.

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Rei Hirose Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Hiromitsu Tannai Department of Diagnostic Radiology, Tohoku University Graduate School of Medicine, Sendai, Japan

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Kazuki Nakai Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Kohzoh Makita Department of Radiology, Nerima Hikarigaoka Hospital, Tokyo, Japan

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Seishi Matsui Department of Interventional Radiology, Yokohama Rosai Hospital, Yokohama, Japan

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Jun Saito Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan

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Summary

A 42-year-old female patient was referred to our hospital with hypertension and hypokalemia and was diagnosed with primary aldosteronism. Dynamic contrast-enhanced computed tomography images revealed a 13-mm nodule on the lateral segment of the left adrenal gland and a fine venous connection between the nodule and the prominent renal capsular vein running nearby. The venograms in the left lateral tributary with a microcatheter confirmed alternative drainage to the left renal capsular vein during adrenal venous sampling, and the left renal capsular vein sampling was added. The patient was diagnosed with a left aldosterone-producing adenoma (APA) using the lateralization index (48.3) and a higher plasma aldosterone concentration (PAC) of the left lateral tributary (66 700 pg/mL) than other tributary samples after adrenocorticotropic hormone stimulation. Furthermore, markedly higher PAC (224 000 pg/mL) was observed in the left renal capsular vein blood than in the left adrenal central vein (45 000 pg/mL) and tributaries, confirming the diagnosis. Laparoscopic left partial adrenalectomy and following histopathological analysis revealed a CYP11B2-positive adrenocortical adenoma. Complete clinical and biochemical success for primary aldosteronism was achieved after 6 months. Direct evidence of APA blood venous drainage into the renal capsular vein has been demonstrated. Sampling from an alternative drainage pathway could be beneficial for APA diagnosis if such APA blood drainage is assumed.

Learning points

  • Aldosterone-producing adenomas may drain blood into an alternative pathway but for the adrenal vein.

  • The presence of alternative venous drainage could be assumed by contrast-enhanced computed tomography or venogram during adrenal venous sampling.

  • Sampling in the alternative drainage veins and demonstrating elevated aldosterone levels could help in diagnosing aldosterone-producing adenoma.

Open access
Clemens Gardemann FH Münster Oecotrophologie, Münster, Germany
Clinic for Pediatrics and Adolescent Medicine/Metabolism Laboratory, Universitätsklinikum Münster, Münster, Germany

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Sonja Knowles FH Münster Oecotrophologie, Münster, Germany

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Thorsten Marquardt Clinic for Pediatrics and Adolescent Medicine/Metabolism Laboratory, Universitätsklinikum Münster, Münster, Germany

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Summary

Traditional guidelines for type 1 diabetics do not restrict carbohydrates to improve clinical outcomes for patients. This paper highlights the favorable blood glucose control outcomes when a type 1 diabetic focuses on caloric intake from protein and healthy fats instead of the traditional carbohydrate-focused meals. We followed a male type 1 diabetic in his 20s adopting a ketogenic diet through a process of slowly lowering total daily carbohydrate intake. Diabetes-related biomarkers were measured throughout the process. Diabetes-related biomarkers saw massive improvements and ended up in the official non-diabetic range. Total daily insulin requirements dropped by 70%. The patient also experienced great improvements in his quality of life. This study demonstrates the possibility of improving diabetes-related biomarkers through dietary changes, which have positive effects on health outcomes in patients living with this disease.

Learning points

  • The adaptation of a ketogenic diet improved diabetes-related biomarkers in this patient.

  • Diabetes-related biomarkers, such as HbA1c, are the main risk factors for developing complications in diabetics.

  • The ketogenic diet is a feasible approach to minimizing the risk of developing complications in diabetics.

  • Total daily insulin requirements dropped by 67% adapting a ketogenic diet.

  • The patient experienced enormous changes in the quality of life after adapting to the new diet.

  • The safe and physiological state of ketosis might be associated with additional benefits for the patient

Open access
Dimitra Stathi Department of Endocrinology and Diabetes, Guy’s and St Thomas’ NHS Trust, London, UK
School of Cardiovascular Medicine & Sciences, King's College London, London, UK

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Sufyan Hussain Department of Endocrinology and Diabetes, Guy’s and St Thomas’ NHS Trust, London, UK

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Danielle Crawley Department of Oncology, Guy’s and St Thomas’ NHS Trust, London, UK

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Janaka Karalliedde Department of Endocrinology and Diabetes, Guy’s and St Thomas’ NHS Trust, London, UK
School of Cardiovascular Medicine & Sciences, King's College London, London, UK

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Summary

A Caucasian man in his 60s with recent diagnosis of metastatic renal cell carcinoma presented to the emergency department with a 5-day history of severe polyuria, polydipsia and fatigue and 1-day history of confusion, abdominal pain, nausea and vomiting. Investigations revealed an overlap of diabetic ketoacidosis (DKA) and hyperosmolar hyperglycaemic state (HHS). He had received the first dose of immunotherapy with nivolumab and ipilimumab 3 weeks prior to this attendance. New-onset type 1 diabetes (T1DM) was confirmed based on the clinical features at presentation, seropositivity for glutamic acid decarboxylase antibodies and significant insulin deficiency. He is currently on a multiple daily injections of insulin and uses intermittent-scanned glucose monitoring. Given the irreversible impact on beta-cell function and clinical response with insulin resulting in improved diabetes control, immunotherapy was resumed for his metastatic cancer with good radiological response. Although rare, new-onset T1DM can present with DKA and HSS overlap after a single dose of nivolumab/ipilimumab in individuals without pre-existing history of diabetes.

Learning points

  • Although rare, new onset of T1DM after immunotherapy can present with DKA and HSS overlap after a single dose of nivolumab/ipilimumab in individuals without pre-existing history of diabetes and normal glycaemic parameters.

  • Due to the irreversible destruction of beta-cells, treatment with steroids is not indicated in contrast to other settings such as immunotherapy-induced hypophysitis.

  • Presence of low c-peptide levels post-acute presentation is indicative of an irreversible impact on beta-cell function and supports resuming immunotherapy given the significant benefits on cancer prognosis.

  • Clinicians must maintain a high index of suspicion in regards to diagnosis and management of new-onset type 1 diabetes and advice patients on reporting symptoms suggestive of diabetes and/or diabetes-related hyperglycaemic emergencies.

Open access
Alexis Elias Malavazos Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy
Department of Biomedical, Surgical and Dental Sciences, Università degli Studi di Milano, Milan, Italy

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Chiara Meregalli Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Fabio Sorrentino Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Andrea Vignati Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Carola Dubini Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Valentina Scravaglieri Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Sara Basilico Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Federico Boniardi Endocrinology Unit, Clinical Nutrition and Cardiovascular Prevention Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Pietro Spagnolo Unit of Radiology, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Piergiorgio Malagoli Unit of Dermatology, IRCCS Policlinico San Donato, San Donato Milanese, Italy

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Paolo Romanelli Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida, USA

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Francesco Secchi Unit of Radiology, IRCCS Policlinico San Donato, San Donato Milanese, Italy
Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy

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Gianluca Iacobellis Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Miami, Florida, USA

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Summary

Psoriasis is often associated with abdominal obesity and type-2 diabetes (T2D). The inflammatory process in psoriasis can target adipose tissue depots, especially those surrounding the heart and coronary arteries, exposing to an increased risk of cardiovascular diseases. A 50-year-old female patient referred to us for abdominal obesity and T2D, which were not controlled with lifestyle modifications. She had suffered from psoriasis for some years and was treated with guselkumab, without success. Epicardial adipose tissue (EAT) attenuation and pericoronary adipose tissue (PCAT) attenuation for each coronary, defined as mean attenuation expressed in Hounsfield unit (HU), were assessed by routine coronary computed tomography angiography. At baseline, EAT attenuation was −80 HU and PCAT attenuation of the right coronary artery (RCA) was −68 HU, values associated with an increased cardiac mortality risk. Psoriasis area and severity index (PASI) was 12.0, indicating severe psoriasis, while dermatology life quality index (DLQI) was 20, indicating a negative effect on the patient’s life. Semaglutide (starting with 0.25 mg/week for 4 weeks, increased to 0.50 mg/week for 16 weeks, and then to 1 mg/week) was started. After 10 months, semaglutide treatment normalized glycated hemoglobin and induced weight loss, particularly at abdominal level, also followed by a reduction in computed tomography-measured EAT volume. EAT attenuation and PCAT attenuation of RCA decreased, showing an important reduction of 17.5 and 5.9% respectively, compared with baseline. PASI and DLQI decreased by 98.3 and 95% respectively, indicating an improvement in psoriasis skin lesions and an important amelioration of the patient’s quality of life, compared with baseline.

Learning points

  • Psoriasis patients affected by obesity and type-2 diabetes (T2D) are often resistant to biologic therapies.

  • Psoriasis is often associated with abdominal obesity, T2D, and cardiovascular diseases (CVD), given their shared inflammatory properties and pathogenic similarities.

  • Epicardial adipose tissue (EAT) inflammation can cause the distinctive pattern of CVD seen in psoriasis.

  • EAT and pericoronary adipose tissue (PCAT) attenuation, assessed by routine coronary computed tomography angiography (CCTA), can be used as biomarkers of inflammation and allow monitoring of medical anti-inflammatory therapies.

  • The actions of semaglutide to reduce energy intake, improve glycemic control, and produce effective weight loss, particularly at the visceral fat depot level, can diminish adipose tissue dysfunction, reduce EAT attenuation and PCAT attenuation of the right coronary artery (RCA) and concomitantly ameliorate the clinical severity of psoriasis.

  • Semaglutide therapy may be considered in psoriasis patients affected by T2D and abdominal obesity, despite low cardiovascular risk by traditional risk scores, who are resistant to biologic therapies.

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Mohammad Alali Kuwait Board of Internal Medicine, Kuwait City, Safat, Kuwait

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Sulaiman Hajji Department of Internal Medicine, Adan Hospital, Kuwait City, Kuwait

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Khalid Aljenaee Department of Internal Medicine, Adan Hospital, Kuwait City, Kuwait

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Summary

Endometrioid carcinomas of the ovary are a subtype of epithelial ovarian tumors, with sertoliform endometrioid carcinomas being a rare variant. We report a case of a previously healthy premenopausal woman presenting with androgenic symptoms in the form of hirsutism and male pattern alopecia. On further testing, she was found to have high levels of luteinizing hormone and total testosterone levels, and imaging revealed a large pelvic abdominal mass in the right ovary. She underwent total hysterectomy with bilateral salpingo-oophorectomy. Microscopy and histopathology confirmed the diagnosis of sertoliform endometrioid carcinoma. Her symptoms improved significantly on follow-up. Androgenic tumors might not be common in premenopausal women; however, it is important to maintain a high level of suspicion in patients presenting with virilizing symptoms especially of rapid progression.

Learning points

  • Our 47-year-old patient presented with virilizing symptoms that were rapidly progressing, which raises the suspicion of an underlying androgen secreting neoplasm.

  • Sertoliform endometrioid carcinoma (SEC) is an extremely rare variant of endometrioid carcinomas and tend to present at an earlier stage as compared to most endometrioid carcinomas of the ovary.

  • Recognition of SEC in virilizing patients is important as it is a well-differentiated, low-grade malignancy with a good prognosis when confined to the ovary.

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Takuya Kumagai Postgraduate Clinical Training Center, Akita Red Cross Hospital, Akita, Japan

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Syohei Koyama Department of Metabolism, Akita Red Cross Hospital, Akita, Japan

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Haruka Yorozu Department of Gastroenterology, Akita Red Cross Hospital, Akita, Japan

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Ayaka Kokita Department of Metabolism, Akita Red Cross Hospital, Akita, Japan

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Naoko Shimizu Department of Metabolism, Akita Red Cross Hospital, Akita, Japan

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Yumi Suganuma Department of Metabolism, Akita Red Cross Hospital, Akita, Japan

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Takashi Goto Department of Metabolism, Akita Red Cross Hospital, Akita, Japan

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Summary

There are very few reports of syndrome of inappropriate antidiuresis hormone secretion (SIADH) after receiving severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA vaccine. Herein, we present the case of an 84-year-old woman who developed severe hyponatremia following the second administration of the SARS-CoV-2 mRNA vaccine. The patient presented with nausea, vomiting, and headache. Laboratory tests showed a plasma sodium level of 119 mmol/L. After receiving 500 mL of intravenous saline over a 2-h period, her plasma sodium level raised to 121 mmol/L, but her symptoms persisted. Considering that rapid plasma sodium correction was necessary, we started 3% saline solution overnight. Her plasma sodium level raised to 132 mmol/L and her symptoms completely resolved. Clinical and laboratory findings were consistent with a diagnosis of SIADH. In the absence of any other triggering factors, we concluded that the condition was likely associated with the vaccination. Clinicians should be aware of the potential for hyponatremia, particularly SIADH, associated with SARS-CoV-2 mRNA vaccination.

Learning points

  • Reports of syndrome of inappropriate antidiuresis hormone secretion after receiving severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination are limited.

  • If nausea, headache, and confusion are observed immediately after SARS-CoV-2 vaccination, clinicians should consider the presence of hyponatremia.

  • As similar case reports to date have presented with severe hyponatremia, prompt treatment may be required.

Open access
Katriona Fox Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland

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Aisling Fitzsimons Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland

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Farhana Sharif Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland
Department of Paediatrics, Royal College of Surgeons in Ireland, Dublin, Ireland
School of Medicine, University College Dublin, Dublin, Ireland

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Graham Robert Lee School of Medicine, University College Dublin, Dublin, Ireland
Department of Clinical Biochemistry and Diagnostic Endocrinology, Mater Misericordiae University Hospital, Dublin, Ireland

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Michael Joseph O’Grady Department of Paediatrics, Regional Hospital Mullingar, Co. Westmeath, Ireland
School of Medicine, University College Dublin, Dublin, Ireland

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Summary

Rare patients who have both thyroid-stimulating hormone (TSH) receptor-stimulating and -blocking antibodies can develop ‘pendulum swinging’ thyroid dysfunction. A 9-year-old girl with Down syndrome was treated with carbimazole for Graves’ disease. After 2 years of treatment, she became profoundly biochemically hypothyroid, and this persisted after carbimazole was discontinued. Low-dose L-thyroxine was commenced. This was subsequently also discontinued as biochemical hyperthyroidism developed. TSH receptor antibody bioassay identified both TSH receptor-stimulating and -blocking antibodies. Mild hyperthyroidism persisted and while consultations regarding definitive treatment were ongoing, medication was not recommenced. Thyroid function normalised spontaneously and she has remained euthyroid for the past 3 years. Previous reports have advised definitive treatment; however, our patient developed spontaneous remission which has been prolonged and definitive therapies have been avoided. It is not yet known how commonly this particular phenomenon occurs.

Learning points

  • Rare patients who have both TSH receptor-stimulating and -blocking antibodies can switch between hyperthyroidism and hypothyroidism or vice versa during treatment with antithyroid drugs or thyroxine.

  • Metamorphic thyroid autoimmunity is more common in Down syndrome.

  • Switching between hyperthyroidism and hypothyroidism and back again is less commonly reported.

  • Definitive treatment such as radioactive iodine or thyroidectomy are usually recommended.

  • Prolonged remission was achieved off all medication, without recourse to definitive treatments.

Open access
Emmanuel Ssemmondo Academic Diabetes, Endocrinology & Metabolism, University of Hull, Hull, United Kingdom

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Mohamed Akasha Idris Hull University Teaching Hospital NHS Trust, Hull, United Kingdom

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Damian Mawer York and Scarborough Teaching Hospitals NHS Foundation Trust, Hull, United Kingdom

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Nicholas Easom Hull University Teaching Hospital NHS Trust, Hull, United Kingdom

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Jonathan Thow York and Scarborough Teaching Hospitals NHS Foundation Trust, Hull, United Kingdom

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Summary

Mpox (MPX) formerly known as monkeypox was declared a public health emergency of international concern, following an outbreak that commenced in May 2022. We report a case of subacute thyroiditis following MPX infection. To our knowledge, it is the first documented incidence of this complication in humans. A 51-year-old male, with a well-controlled human immunodeficiency virus (HIV) infection on antiretroviral therapy, was reviewed 3 weeks after a positive test for MPX. The acute skin lesions and initial systemic symptoms had resolved, but he described significant neck discomfort, fatigue, weight loss and night sweats. Blood tests showed a raised C-reactive protein, free T4 and suppressed thyroid-stimulating hormone. His thyroid antibodies were negative. He was treated initially with carbimazole and propranolol, pending exclusion of any other intercurrent infection. A chest radiograph was normal; blood cultures and a combined nose and throat swab for respiratory virus PCR testing were negative. Following this, he commenced a 2-week course of prednisolone; his symptoms resolved completely within 24 h of starting. He subsequently developed hypothyroidism, which was treated with levothyroxine. The clinical features, abnormal thyroid function, raised CRP and negative thyroid antibodies 3 weeks post-MPX positive test was consistent with viral subacute thyroiditis. This case demonstrates that, as described following other viral infections, MPX can cause subacute thyroiditis, which follows a similar course to the classic form of subacute thyroiditis. Clinicians should be aware of this potential endocrine complication when attending to patients with MPX.

Learning points

  • Subacute thyroiditis can present following mpox virus infection.

  • Its course is similar to the classic form of subacute thyroiditis and steroids are effective.

  • It is important to exclude other concurrent infections prior to starting steroids, especially for patients who are immunosuppressed or in other high-risk groups.

Open access