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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
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
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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beta (RTHβ). A region encompassing codons 384–425 of THRB is virtually devoid of RTHβ-causing mutations and was termed “cold region.” What Does This Case Report Add? Although the G385E variant was identified in an individual in

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000503860
Volume/Issue:
Volume 8: Issue 6
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
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
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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hormone action via nuclear receptors ( 1 , 2 , 3 ). Accordingly, these guidelines focus on the diagnosis and management of genetic disorders of thyroid hormone transport, metabolism, and action comprising resistance to thyroid hormone β (RTHβ

Article Type:
Other
Collections:
Thyroid hormone action
DOI:
https://doi.org/10.1530/ETJ-24-0125
Volume/Issue:
Volume 13: Issue 4
Open 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
Alies A. van Mullem Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands

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Theo J. Visser Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands

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Robin P. Peeters Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands

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the ligand-binding domain of THRB are associated with resistance to TH (RTHβ). RTHβ is characterized by high serum TH levels in combination with nonsuppressed thyroid-stimulating hormone (TSH). The syndrome may comprise goiter, tachycardia, and

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000360637
Volume/Issue:
Volume 3: Issue 1
Free access
Irene Campi Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Marco Dell’Acqua Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Elisa Stellaria Grassi Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Maria Cristina Vigone Department of Paediatrics, IRCCS San Raffaele Hospital, Milan, Italy

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

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Urinary loss of transport protein Nephrotic syndrome Resistance to L-T4 (normalization of the TSH possible only with high fT4/fT3) Congenital hypothyroidism RTHβ TSH-oma RETH (transient or permanent): not fully characterized

Article Type:
Review Article
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1530/ETJ-23-0012
Volume/Issue:
Volume 12: Issue 4
Open access
Georgios Kostopoulos Department of Endocrinology and Metabolism, Ippokratio General Hospital of Thessaloniki, Greece

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Grigoris Effraimidis Department of Endocrinology and Metabolic Diseases, Larissa University Hospital, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece

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thyroid hormone receptor beta gene (resistance to thyroid hormone β – RTHβ) are more susceptible to AF due to lifelong exposure to thyroid hormones. Cardiomyocytes predominately express thyroid receptor alpha, and therefore patients with RTHβ preserve

Article Type:
Review Article
Collections:
Hyperthyroidism and thyrotoxicosis
DOI:
https://doi.org/10.1530/ETJ-23-0254
Volume/Issue:
Volume 13: Issue 2
Open access