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Irene Campi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy

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Maura Agostini Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom

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Federica Marelli Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy

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Tiziana de Filippis Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy

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Beatriz Romartinez-Alonso Department of Molecular and Cell Biology, Leicester Institute of Structural and Chemical Biology, University of Leicester, Leicester, United Kingdom

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Odelia Rajanayagam Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom

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Giuditta Rurale Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy

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Ilaria Gentile Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Federica Spagnolo Unit of Endocrinology, University Hospital “G. Martino”, Messina, Italy

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Massimiliano Andreasi Laboratorio Analisi Cliniche, Centro di Ricerche e Tecnologie Biomediche, IRCCS Istituto Auxologico Italiano, Cusano Milanino, Italy

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Francesco Ferraù Unit of Endocrinology, University Hospital “G. Martino”, Messina, Italy
Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy

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Salvatore Cannavò Unit of Endocrinology, University Hospital “G. Martino”, Messina, Italy
Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy

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Laura Fugazzola Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

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Krishna V. Chatterjee Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom

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Luca Persani Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Established Facts Resistance to thyroid hormone (RTHβ) syndrome is caused by dominant negative variants in the THRB gene. Pathogenic variants recur within 3 hot spots in the ligand-binding domain involving the amino acid

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000519748
Volume/Issue:
Volume 10: Issue 6
Free access
Luca Persani Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milano, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy

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Patrice Rodien Service d’Endocrinologie-Diabétologie-Nutrition, Centre de référence des maladies rares de la Thyroïde et des récepteurs hormonaux, CHU d’Angers, Angers, France.

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Carla Moran Institute of Metabolic Science, University of Cambridge, Cambridge, UK
Endocrine Section, Beacon Hospital, Dublin, Ireland.
School of Medicine, University College Dublin, Ireland
Endocrinology Department, St Vincent’s University Hospital, Dublin, Ireland

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W Edward Visser Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands

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Stefan Groeneweg Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands

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Robin Peeters Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands

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Samuel Refetoff Departments of Medicine and Paediatrics and Committee on Genetics, The University of Chicago, Chicago, Illinois, USA

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Mark Gurnell Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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Paolo Beck-Peccoz Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy

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Krishna Chatterjee Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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exert their physiological effects principally by regulating the expression of target genes via hormone-inducible nuclear receptors (TRα and TRβ). A consensus statement after the 12th International Workshop on resistance to thyroid hormone widened the

Article Type:
Other
Collections:
Thyroid hormone action
DOI:
https://doi.org/10.1530/ETJ-24-0125
Volume/Issue:
Volume 13: Issue 4
Open access
Yasmine Abdellaoui Department of Internal Medicine, Foch Hospital, Suresnes, France

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Dimitra Magkou Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France

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Sofia Bakopoulou Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France

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Ramona Zaharia Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France

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Marie-Laure Raffin-Sanson Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France
EA 4340, Université Versailles Saint Quentin en Yvelines, UFR Simone Veil Santé, Montigny le Bretonneux, France

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Laure Cazabat Department of Endocrinology and Nutrition, Ambroise Paré Universitary Hospital, Assistance Publique Hôpitaux de Paris, Boulogne, France
EA 4340, Université Versailles Saint Quentin en Yvelines, UFR Simone Veil Santé, Montigny le Bretonneux, France

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What Is Known about This Topic? Both Graves’ disease and autoimmune hypothyroidism were described in patients with resistance to thyroid hormone beta (RTHβ). Undiagnosed RTHβ can lead to misdiagnosis of Graves’ disease. The

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000506424
Volume/Issue:
Volume 9: Issue 5
Free access
Giorgio Radetti Marienklinik, Bolzano, Italy

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Franco Rigon Department of Paediatrics, University of Padua, Padua, Italy

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Alessandro Salvatoni Department of Medicine and Surgery, University of Insubria, Varese, Italy

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Irene Campi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Tiziana De Filippis Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Valentina Cirello Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Silvia Longhi Department of Paediatrics, Regional Hospital of Bolzano, Bolzano, Italy

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Fabiana Guizzardi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Marco Bonomi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Luca Persani Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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eutopic thyroid gland ( 1 ). The concomitant occurrence of CH and resistance to thyroid hormone syndrome type β (RTHβ) are exceptional, since only five patients have been described so far, and only in four patients, a mutation in the THRB gene has been

Article Type:
Research Article
Collections:
Thyroid hormone action
DOI:
https://doi.org/10.1530/ETJ-21-0054
Volume/Issue:
Volume 11: Issue 2
Open access
P. Beck-Peccoz Department of Clinical Sciences and Community Health, University of Milan, Endocinology and Diabetology Unit, Fondazione IRCCS Cà Granda Policlinico

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A. Lania Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, University of Milan, Endocrine Unit, Istituto Clinico Humanitas IRCCS, Rozzano, Milan, Italy

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A. Beckers Service d'Endocrinologie, Centre Hospitalier Universitaire de Liège, Université de Liège, Liège, Belgium

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K. Chatterjee Institute of Metabolic Science, Metabolic Research Laboratories, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK

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J.-L. Wemeau CHRU, Hôpital Claude-Huriez, Clinique Endocrinologique Marc-Linquette, Lille, France

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the European Thyroid Association. References were searched in PubMed using the following search terms: TSH-secreting pituitary adenoma, central hyperthyroidism, TSH, syndromes of resistance to thyroid hormones, transsphenoidal surgery, somatostatin

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000351007
Volume/Issue:
Volume 2: Issue 2
Free access
Caiyan Mo Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Han Chen Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Qi Zhang Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Ying Guo Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Liyong Zhong Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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rare cause of hyperthyroidism that includes TSH-secreting pituitary adenomas (TSHoma) and resistance to thyroid hormone β (RTHβ). When the thyroid hormone level rises and the TSH concentration is not inhibited, the diagnosis of central hyperthyroidism

Article Type:
Review Article
Collections:
Hyperthyroidism and thyrotoxicosis
DOI:
https://doi.org/10.1530/ETJ-22-0223
Volume/Issue:
Volume 12: Issue 4
Open access
Dominik Spira Department of Endocrinology and Metabolism, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Nikolaus Buchmann Department of Cardiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Marcus Dörr Department of Internal Medicine B, University Medicine Greifswald, Greifswald, Germany
German Centre for Cardiovascular Research (DZHK), partner site Greifswald, Greifswald, Germany

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Marcello R P Markus Department of Internal Medicine B, University Medicine Greifswald, Greifswald, Germany
German Centre for Cardiovascular Research (DZHK), partner site Greifswald, Greifswald, Germany

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Matthias Nauck German Centre for Cardiovascular Research (DZHK), partner site Greifswald, Greifswald, Germany
Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany

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Sabine Schipf Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany

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Joachim Spranger Department of Endocrinology and Metabolism, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Ilja Demuth Department of Endocrinology and Metabolism, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
Charité – Universitätsmedizin Berlin, BCRT – Berlin Institute of Health Center for Regenerative Therapies, Berlin, Germany

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Elisabeth Steinhagen-Thiessen Department of Endocrinology and Metabolism, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Henry Völzke German Centre for Cardiovascular Research (DZHK), partner site Greifswald, Greifswald, Germany
Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany

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Till Ittermann Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany

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Introduction Thyroid hormones regulate important metabolic processes. Thus, thyroid dysfunction can lead to clinically relevant alterations in energy expenditure, body weight regulation, glucose metabolism, and lipid metabolism ( 1 ). It is

Article Type:
Research Article
Collections:
Metabolic and cardiovascular effects of thyroid hormone
DOI:
https://doi.org/10.1530/ETJ-21-0063
Volume/Issue:
Volume 11: Issue 2
Open access
Manassawee Korwutthikulrangsri Department of Medicine, University of Chicago, Chicago, Illinois, USA
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Chrysoula Dosiou Department of Medicine, Stanford University School of Medicine, Stanford, California, USA

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Alexandra M. Dumitrescu Department of Medicine, University of Chicago, Chicago, Illinois, USA
Committee on Molecular Metabolism and Nutrition, University of Chicago, Chicago, Illinois, USA

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Samuel Refetoff Department of Medicine, University of Chicago, Chicago, Illinois, USA
Department of Pediatrics, University of Chicago, Chicago, Illinois, USA
Committee on Genetics, University of Chicago, Chicago, Illinois, USA

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What Is Known about This Topic? Mutations in the thyroid hormone receptor beta gene ( THRB ) in the region encoding the T3-binding and the adjacent hinge domains of the receptor have been reported to cause resistance to thyroid hormone

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000503860
Volume/Issue:
Volume 8: Issue 6
Free access
João Anselmo Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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Carolina M. Chaves Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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levels of TH in mothers with resistance to thyroid hormone beta (RTHβ). This dominantly inherited disorder is characterized by reduced responsiveness to TH caused by mutations of the THRB gene. Affected individuals are mostly asymptomatic despite high

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000506423
Volume/Issue:
Volume 9: Issue 3
Free access
Genfeng Yu Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Siyang Liu Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Cheng Song Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Qintao Ma Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Xingying Chen Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Yuqi Jiang Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Hualin Duan Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Yajun He Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Dongmei Wang Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Heng Wan Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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Jie Shen Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University (The First People's Hospital of Shunde, Foshan), Guangdong, China

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), carotid plaque ( 23 ), and metabolic dysfunction-associated fatty liver disease ( 24 ). A study has indicated that elevated levels of resistance to thyroid hormone indices are associated with diabetes-related mortality in the general population of the

Article Type:
Research Article
Collections:
Metabolic and cardiovascular effects of thyroid hormone
DOI:
https://doi.org/10.1530/ETJ-23-0130
Volume/Issue:
Volume 13: Issue 1
Open access