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  • Thyroid-stimulating hormone x
  • Thyroid hormone action x
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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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demonstrated ( 4 , 5 , 6 , 7 ). RTHβ, firstly described by Refetoff in 1967 ( 8 ), is characterized by elevated circulating free thyroxine (fT4) and free tri-iodothyronine (fT3) together with an unsuppressed thyroid-stimulating hormone (TSH). RTHβ is

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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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screening for rare genetic and acquired disorders of thyroid hormone transport, metabolism, and action ( Recommendation: S; Quality of evidence: ØØØO). Dynamic endocrine tests (TRH stimulation (if available), L-T3 suppression), pituitary imaging (MRI

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Sander Barnhoorn Department of Molecular Genetics, Erasmus Medical Center, Rotterdam, The Netherlands

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Marcel E Meima Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus Medical Center, Rotterdam, The Netherlands

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Robin P Peeters Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus Medical Center, Rotterdam, The Netherlands

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Veerle M Darras Laboratory of Comparative Endocrinology, Biology Department, KU Leuven, Leuven, Belgium

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Selmar Leeuwenburgh Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus Medical Center, Rotterdam, The Netherlands

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Jan H J Hoeijmakers Department of Molecular Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Oncode Institute, Utrecht, The Netherlands
Institute for Genome Stability in Ageing and Disease, CECAD Research Centre, Cologne, Germany

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Wilbert P Vermeij Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Oncode Institute, Utrecht, The Netherlands

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W Edward Visser Department of Internal Medicine, Academic Center for Thyroid Diseases, Erasmus Medical Center, Rotterdam, The Netherlands

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changes during aging ( 2 , 3 , 4 , 5 ). In humans, thyroid-stimulating hormone (TSH) concentrations typically increase with age while concentrations of the bioactive T3 (triiodothyronine) decrease in the elderly population ( 3 , 5 ). Whether such

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Eveline Bruinstroop Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands

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Anne H van der Spek Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands

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Anita Boelen Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands
Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, the Netherlands

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no Dio1 activity in the liver, kidney, and thyroid ( 19 ). In both models, a similar pattern of serum thyroid hormone levels was observed. Serum T3 and thyroid-stimulating hormone (TSH) concentrations remained within the normal range whereas serum T4

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Sepehr Torabinejad Department of Clinical Medicine and Surgery, University of Naples ’Federico II’, Naples, Italy

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Caterina Miro Department of Clinical Medicine and Surgery, University of Naples ’Federico II’, Naples, Italy

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Biagio Barone Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II

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Ciro Imbimbo Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II

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Felice Crocetto Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II

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Monica Dentice Department of Clinical Medicine and Surgery, University of Naples ’Federico II’, Naples, Italy
CEINGE – Biotecnologie Avanzate Scarl, Naples, Italy

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thyroxine, thyroid-stimulating hormone, and hypothyroid status and the risk of prostate cancer . PLoS One 2012 7 e47730. ( https://doi.org/10.1371/journal.pone.0047730 ) 40 Tran TV Kitahara CM de Vathaire F Boutron-Ruault MC & Journy N

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Juan Ren ENS de Lyon, INRAE, CNRS, Institut de Génomique Fonctionnelle de Lyon, Lyon, France

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Frédéric Flamant ENS de Lyon, INRAE, CNRS, Institut de Génomique Fonctionnelle de Lyon, Lyon, France

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-Lasselin C Riviere J Gilles M Chassande O Morgenthaler C Laloe D Lecardonnel J Flamant F Chondrocytes play a major role in the stimulation of bone growth by thyroid hormone . Endocrinology 2014 155 3123 – 3135 . ( https://doi.org/10.1210/en

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Yalan Hu Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Gastroenterology, Endocrinology & Metabolism (AGEM) Research Institute, Amsterdam UMC, Amsterdam, the Netherlands

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Kim Falize Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands

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A S Paul van Trotsenburg Amsterdam Gastroenterology, Endocrinology & Metabolism (AGEM) Research Institute, Amsterdam UMC, Amsterdam, the Netherlands
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands

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Raoul Hennekam Department of Pediatrics, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands

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Eric Fliers Amsterdam Gastroenterology, Endocrinology & Metabolism (AGEM) Research Institute, Amsterdam UMC, Amsterdam, the Netherlands
Department of Endocrinology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands

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Eveline Bruinstroop Amsterdam Gastroenterology, Endocrinology & Metabolism (AGEM) Research Institute, Amsterdam UMC, Amsterdam, the Netherlands
Department of Endocrinology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands

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Anita Boelen Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Gastroenterology, Endocrinology & Metabolism (AGEM) Research Institute, Amsterdam UMC, Amsterdam, the Netherlands

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differences in serum thyroxine (T4), triiodothyronine (T3) and thyroid-stimulating-hormone (TSH) concentrations were observed between Tbl1xr1 Y446C/Y446C and wild type (WT) mice ( 6 ). There were no serum TH abnormalities reported in Pierpont patients or

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Ángel García-Aldea Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, Spain

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Marina Guillén-Yunta Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, Spain

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Víctor Valcárcel-Hernández Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, Spain

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Ana Montero-Pedrazuela Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, Spain

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Ana Guadaño-Ferraz Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, Spain

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Soledad Bárez-López Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, Spain

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concentrations of T3, low T4, and rT3, and normal or slightly high levels of thyroid-stimulating hormone (TSH), indicating that there are also alterations in TH synthesis and metabolism ( 12 ). The restricted TH entry to the brain and the subsequent dysregulation

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Yingxin Fang Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Pingping Dang Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Yue Liang Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Defa Zhao Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Ranran Wang Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Yue Xi Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Jinzhou Medical University, Jinzhou, People’s Republic of China

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Dan Zhang Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China
Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Jinzhou Medical University, Jinzhou, People’s Republic of China

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Wei Wang Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Zhongyan Shan Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Weiping Teng Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Xiaochun Teng Department of Endocrinology and Metabolism, Institute of Endocrine, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, People’s Republic of China

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Introduction Thyroid hormones (THs, namely, the prohormone thyroxine T4 and its active form, triiodothyronine T3) play pivotal roles in diverse aspects of life, mainly during development, when they regulate skeletal growth, cardiac function

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Zhongli Chen Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands

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Robin P Peeters Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands

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Wesley Flach Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands

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Linda J de Rooij Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands

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Sena Yildiz Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands

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Alexander Teumer Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany
DZHK (German Center for Cardiovascular Research), Partner Site Greifswald, Greifswald, Germany
Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany

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Matthias Nauck DZHK (German Center for Cardiovascular Research), Partner Site Greifswald, Greifswald, Germany
Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Germany

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Rosalie B T M Sterenborg Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands
Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands

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Joost H W Rutten Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands

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Marco Medici Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands
Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands

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W Edward Visser Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands

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Marcel E Meima Department of Internal Medicine, Academic Centre for Thyroid Diseases, Erasmus University Medical Center Rotterdam, The Netherlands

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necessarily mean it has no physiological relevance. For example, common genetic variation in MCT8 , mutations which cause neurocognitive phenotypes, has no association with thyroid stimulating hormone (TSH) or FT4 levels ( 14 ). A second process for which

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