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  • Author: Paolo Beck-Peccoz x
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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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Impaired sensitivity to thyroid hormones encompasses disorders with defective transport of hormones into cells, reduced hormone metabolism, and resistance to hormone action. Mediated by heritable single-gene defects, these rare conditions exhibit different patterns of discordant thyroid function associated with multisystem phenotypes. In this context, challenges include ruling out other causes of biochemical discordance, making a diagnosis using clinical features together with the identification of pathogenic variants in causal genes, and managing these rare disorders with a limited evidence base. For each condition, the present guidelines aim to inform clinical practice by summarizing key clinical features and useful investigations, criteria for molecular genetic diagnosis, and pathways for management and therapy. Specific, key recommendations were developed by combining the best research evidence available with the knowledge and clinical experience of panel members, to achieve a consensus.

Article Type:
Other
Collections:
Thyroid hormone action
DOI:
https://doi.org/10.1530/ETJ-24-0125
Volume/Issue:
Volume 13: Issue 4
Open access
Samuel Refetoff Departments of Medicine, The University of Chicago, Chicago, Ill., USA
Departments of Pediatrics, The University of Chicago, Chicago, Ill., USA
Genetics, The University of Chicago, Chicago, Ill., USA

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J.H. Duncan Bassett Department of Medicine, Imperial College London, London, UK

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Paolo Beck-Peccoz Department of Clinical Sciences and Community Health, University of Milan
Fondazione Ca' Granda Policlinico, Milan, Italy

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Juan Bernal Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autonoma de Madrid and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain

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Gregory Brent Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Calif., USA

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Krishna Chatterjee Wellcome-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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Leslie J. De Groot Thyroidmanager and Endotext, South Dartmouth, Mass

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Alexandra M. Dumitrescu Departments of Medicine, The University of Chicago, Chicago, Ill., USA

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J. Larry Jameson Raymond and Ruth Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa

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Peter A. Kopp Division of Endocrinology, Metabolism, and Molecular Medicine and Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Ill., USA

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Yoshiharu Murata Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan

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Luca Persani Department of Clinical Sciences and Community Health, University of Milan
Istituto Auxologico Italiano, Milan, Italy

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Jacques Samarut Ecole Normale Supérieure de Lyon, Lyon, France

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Roy E. Weiss Departments of Medicine, The University of Chicago, Chicago, Ill., USA
Departments of Pediatrics, The University of Chicago, Chicago, Ill., USA

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Graham R. Williams Department of Medicine, Imperial College London, London, UK

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Paul M. Yen Laboratory of Hormone Action, Singapore Institute of Clinical Sciences, Singapore, Singapore

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Article Type:
Article Commentary
DOI:
https://doi.org/10.1159/000358180
Volume/Issue:
Volume 3: Issue 1
Free access