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Julia Müller Leibniz Institute for Age Research/Fritz Lipmann Institute, Jena, Germany

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Heike Heuer Leibniz Institute for Age Research/Fritz Lipmann Institute, Jena, Germany

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[ 22 ]. Here, we will summarize the consequences of Mct8 deficiency in humans and mice with a special focus on the hypothalamus-pituitary-thyroid axis. Phenotype of MCT8 Patients The physiological significance of Mct8 as a transporter critical

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000339474
Volume/Issue:
Volume 1: Issue 2
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Eva K. Wirth Institut für Experimentelle Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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Eddy Rijntjes Institut für Experimentelle Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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Franziska Meyer Institut für Experimentelle Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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Josef Köhrle Institut für Experimentelle Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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Ulrich Schweizer Institut für Experimentelle Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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-stimulating hormone levels paved the way to the discovery of underlying mutations in MCT8 in these patients [ 2 , 3 ]. Mouse models for Mct8 deficiency have been generated and replicate the endocrine phenotype seen in humans [ 4 , 5 , 6 ]. Low circulating T 4 and

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000381021
Volume/Issue:
Volume 4: Issue 1_Suppl
Free access
Doreen Braun Institut für Biochemie und Molekularbiologie, Medizinische Fakultät, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany

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Ulrich Schweizer Institut für Biochemie und Molekularbiologie, Medizinische Fakultät, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany

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mouse model that displays neurodevelopmental features of MCT8 deficiency [ 13 ]. The brain phenotype of these mice could be rescued by administration of the T 3 metabolite 3,3′,5-triiodothyroacetic acid (Triac) [ 14 ]. Triac is a T 3 receptor agonist

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000507439
Volume/Issue:
Volume 9: Issue 5
Free access
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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regulate the expression of different target genes. This is the pathway by which TH mediates most of its actions ( 2 ). The Allan–Herndon–Dudley syndrome (AHDS), or MCT8 deficiency, is a rare X-linked disease caused by inactivating mutations in the SLC16A

Article Type:
Review Article
Collections:
Thyroid hormone action
DOI:
https://doi.org/10.1530/ETJ-23-0241
Volume/Issue:
Volume 13: Issue 2
Open access
Ulrich Schweizer Institut für Biochemie und Molekularbiologie, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany

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Jörg Johannes Institut für Experimentelle Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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Dorothea Bayer Institut für Biochemie und Molekularbiologie, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany

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Doreen Braun Institut für Biochemie und Molekularbiologie, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany

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progressed significantly within only one decade. Physiological Effects of TH Transporter Deficiency Patients carrying mutations in MCT8 exhibit high T 3 , low/normal T 4 , and normal TSH levels [ 9 , 10 ]. Mice deficient in Mct8 display the same

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000367858
Volume/Issue:
Volume 3: Issue 3
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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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), resistance to thyroid hormone α (RTHα), monocarboxylate transporter 8 (MCT8) defects, selenoprotein deficiency, and iodothyronine deiodinase 1 defects. Methodology and grading of evidence Following consultation with its Guidelines Board, the Executive

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Thyroid hormone action
DOI:
https://doi.org/10.1530/ETJ-24-0125
Volume/Issue:
Volume 13: Issue 4
Open access
Kathrin Engels Department of Endocrinology and Metabolism, University Hospital Essen, Essen, Germany

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Helena Rakov Department of Endocrinology and Metabolism, University Hospital Essen, Essen, Germany

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Denise Zwanziger Department of Endocrinology and Metabolism, University Hospital Essen, Essen, Germany

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Lars C. Moeller Department of Endocrinology and Metabolism, University Hospital Essen, Essen, Germany

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Georg Homuth Department of Functional Genomics, Ernst-Moritz-Arndt University Greifswald, Greifswald, Germany

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Josef Köhrle Institute of Experimental Endocrinology, Charité-Universitätsmedizin Berlin, Berlin, Germany

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Klaudia Brix Department of Life Sciences and Chemistry, Jacobs University Bremen, Bremen, Germany

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Dagmar Führer Department of Endocrinology and Metabolism, University Hospital Essen, Essen, Germany

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-specific alterations in thyroid hormone homeostasis in combined Mct10 and Mct8 deficiency. Endocrinology 2014;155:315-325. 17 Friesema EC, Docter R, Moerings EP, Stieger B, Hagenbuch B, Meier PJ, Krenning EP, Hennemann G, Visser TJ: Identification of thyroid

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000381020
Volume/Issue:
Volume 4: Issue 1_Suppl
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Dagmar Führer Department of Endocrinology and Metabolism, University Hospital Essen, University Duisburg-Essen, Essen, Germany

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Klaudia Brix Department of Life Sciences and Chemistry, Jacobs University Bremen, Bremen, Germany

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Heike Biebermann Institut für Experimentelle Pädiatrische Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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-91] provide evidence that the characteristic serum TH profile in Mct8-deficiency is not caused by increased hepatic conversion through the type I-deiodinase selenoprotein enzyme. Astonishingly, Mct8-deficient mice show a much weaker neurological phenotype

Article Type:
Editorial
DOI:
https://doi.org/10.1159/000431318
Volume/Issue:
Volume 4: Issue 1_Suppl
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Riccardo Donzelli Departments of Pathology, University of Pisa

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Daria Colligiani Departments of Clinical and Experimental Medicine, University of Pisa

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Claudia Kusmic Departments of CNR Institute of Clinical Physiology, Pisa, Italy

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Martina Sabatini Departments of Pathology, University of Pisa

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Leonardo Lorenzini Departments of Pathology, University of Pisa

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Alice Accorroni Departments of Pathology, University of Pisa
Departments of Scuola Superiore Sant'Anna, Pisa, Italy

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Monica Nannipieri Departments of Clinical and Experimental Medicine, University of Pisa

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Alessandro Saba Departments of Pathology, University of Pisa

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Giorgio Iervasi Departments of CNR Institute of Clinical Physiology, Pisa, Italy

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Riccardo Zucchi Departments of Pathology, University of Pisa

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accurate index of the functional state. Discrepancy between plasma and tissue TH homeostasis has been reported in rare genetic diseases such as MCT8 deficiency [ 8 ]. It has also been suggested to occur in common clinical conditions such as heart failure

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000443523
Volume/Issue:
Volume 5: Issue 1
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Rob Janssen Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands

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Alice Muller Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands

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Warner S. Simonides Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands

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Müller J, Mayerl S, Visser TJ, Darras VM, Boelen A, Frappart L, et al: Tissue-specific alterations in thyroid hormone homeostasis in combined Mct10 and Mct8 deficiency. Endocrinology 2014;155: 315–325. 10.1007/s11745-017-4243-4 28315997 21 Escobar

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000469708
Volume/Issue:
Volume 6: Issue 3
Open access