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Paneeraq Noahsen
Paneeraq Noahsen
Arctic Health Research Centre, Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Ilisimatusarfik, University of Greenland, Nuuk, Greenland
National Board of Health, Nuuk, Greenland
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Ilisimatusarfik, University of Greenland, Nuuk, Greenland
National Board of Health, Nuuk, Greenland
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Karsten F Rex
Karsten F Rex
Arctic Health Research Centre, Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Ilisimatusarfik, University of Greenland, Nuuk, Greenland
Department of Internal Medicine, Queen Ingrid’s Hospital, Nuuk, Greenland
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Ilisimatusarfik, University of Greenland, Nuuk, Greenland
Department of Internal Medicine, Queen Ingrid’s Hospital, Nuuk, Greenland
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Inge Bülow Pedersen
Inge Bülow Pedersen
Department of Endocrinology, Aalborg University Hospital, Aalborg, Denmark
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Gert Mulvad
Gert Mulvad
Ilisimatusarfik, University of Greenland, Nuuk, Greenland
Queen Ingrid’s Health Care Centre, Nuuk, Greenland
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Queen Ingrid’s Health Care Centre, Nuuk, Greenland
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Hans Christian Florian-Sørensen
Hans Christian Florian-Sørensen
Tasiilaq Health Care Center, Tasiilaq, Greenland
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Michael Lynge Pedersen
Michael Lynge Pedersen
Steno Diabetes Center Nuuk, Nuuk, Greenland
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Stig Andersen
Stig Andersen
Arctic Health Research Centre, Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Ilisimatusarfik, University of Greenland, Nuuk, Greenland
Department of Internal Medicine, Queen Ingrid’s Hospital, Nuuk, Greenland
Department of Geriatric Medicine, Aalborg University Hospital, Aalborg, Denmark
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Ilisimatusarfik, University of Greenland, Nuuk, Greenland
Department of Internal Medicine, Queen Ingrid’s Hospital, Nuuk, Greenland
Department of Geriatric Medicine, Aalborg University Hospital, Aalborg, Denmark
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genetic component in thyroid autoimmunity. An interesting path to consider is the potential modulation of the immune responses by thyroid hormones ( 32 ) influenced by T3 levels altered by the cold that comes with Arctic residence ( 33 ). Furthermore
Yalan Hu
Yalan Hu
Y Hu, Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC Locatie AMC, Amsterdam, 1105 AZ , Netherlands
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Lorraine Soares De Oliveira
Lorraine Soares De Oliveira
L Soares De Oliveira, Department of Medicine, Boston Medical Center, Boston, United States
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Kim Falize
Kim Falize
K Falize, Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC Locatie AMC, Amsterdam, Netherlands
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A S Paul van Trotsenburg
A S Paul van Trotsenburg
A van Trotsenburg, Department of Pediatric Endocrinology. Emma children’s hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Amsterdam UMC Location AMC, Amsterdam, Netherlands
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Eric Fliers
Eric Fliers
E Fliers, Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Amsterdam UMC Location AMC, Amsterdam, Netherlands
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Joseph E Kaserman
Joseph E Kaserman
J Kaserman, Center for Regenerative Medicine (CReM) of Boston University and Boston Medical Center, Boston Medical Center, Boston, United States
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Andrew A Wilson
Andrew A Wilson
A Wilson, Center for Regenerative Medicine (CReM) of Boston University and Boston Medical Center, Boston Medical Center, Boston, United States
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Anthony N Hollenberg
Anthony N Hollenberg
A Hollenberg, Department of Medicine, Boston Medical Center, Boston, United States
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Eveline Bruinstroop
Eveline Bruinstroop
E Bruinstroop, Endocrinology and Metabolism, Amsterdam UMC Locatie AMC, Amsterdam, Netherlands
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Anita Boelen
Anita Boelen
A Boelen, Department of Laboratory Medicine, University of Amsterdam, Amsterdam, 1000 GG, Netherlands
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Background:
Mutations in TBL1X, part of the NCoR1/SMRT corepressor complex, were identified in patients with hereditary X-linked central congenital hypothyroidism and associated hearing loss. The role of TBL1X in thyroid hormone (TH) action, however, is incompletely understood. The aim of the present study was to investigate the role of TBL1X on T3 regulated gene expression in two human liver cell models.
Methods:
A human hepatoma cell line (HepG2) wherein TBL1X was down regulated using siRNAs, and human-induced pluripotent stem cell-derived hepatocytes (iHeps) generated from individuals with a TBL1X N365Y mutation. Both cell types were treated with increasing concentrations of T3. The expression of T3 regulated genes was measured by qPCR.
Results:
KLF9, CPT1A and PCK1 mRNA expression was higher upon T3 stimulation in the HepG2 cells with decreased TBL1X expression compared to controls, while DIO1 mRNA expression was lower. Hemizygous TBL1X N365Y iHeps exhibited decreased expression of CPT1A, G6PC1, PCK1, FBP1 and ELOVL2 compared to cells with the heterozygous TBL1X N365Y, but KLF9 and HMGCS2 expression was unaltered.
Conclusion:
Downregulation of TBL1X in HepG2 cells and the TBL1X N365Y variant in iHeps have differential effects on T3 regulated gene expression. This suggests that TBL1X may play a gene context role in thyroid hormone TH action.
Furio Pacini
Furio Pacini
Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, Section of Endocrinology and Metabolism, University of Siena, Siena, Italy
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between the low and high risk), remnant ablation may be indicated but the decision must be individualized. Effective thyroid ablation requires adequate stimulation by TSH. This may be achieved by thyroid hormone withdrawal (THW) or after recombinant
Graham R. Williams
Graham R. Williams
Molecular Endocrinology Group, Department of Medicine, Imperial College London, London, UK
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(HPT) axis senses circulating thyroid hormone concentrations and physiological thyroid status is controlled by negative feedback regulation of thyrotropin-releasing hormone (TRH) in the hypothalamus and thyroid-stimulating hormone (TSH, thyrotropin
Luca Persani
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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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy
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Patrice Rodien
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
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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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
W Edward Visser
Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands
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Stefan Groeneweg
Stefan Groeneweg
Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands
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Robin Peeters
Robin Peeters
Department of Internal Medicine and Rotterdam Thyroid Center, Erasmus University Medical Center, Rotterdam, The Netherlands
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Samuel Refetoff
Samuel Refetoff
Departments of Medicine and Paediatrics and Committee on Genetics, The University of Chicago, Chicago, Illinois, USA
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Mark Gurnell
Mark Gurnell
Institute of Metabolic Science, University of Cambridge, Cambridge, UK
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Paolo Beck-Peccoz
Paolo Beck-Peccoz
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy
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Krishna Chatterjee
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
João Sérgio Neves
João Sérgio Neves
Unidade de Investigação Cardiovascular, Departamento de Cirurgia e Fisiologia, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
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Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
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Ricardo Fontes-Carvalho
Ricardo Fontes-Carvalho
Unidade de Investigação Cardiovascular, Departamento de Cirurgia e Fisiologia, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
Department of Cardiology, Centro Hospitalar Gaia/Espinho, Vila Nova de Gaia, Portugal
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Department of Cardiology, Centro Hospitalar Gaia/Espinho, Vila Nova de Gaia, Portugal
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Marta Borges-Canha
Marta Borges-Canha
Unidade de Investigação Cardiovascular, Departamento de Cirurgia e Fisiologia, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
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Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
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Ana Rita Leite
Ana Rita Leite
Unidade de Investigação Cardiovascular, Departamento de Cirurgia e Fisiologia, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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Sandra Martins
Sandra Martins
Department of Clinical Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal
EPIUnit – Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal
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EPIUnit – Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal
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Ana Oliveira
Ana Oliveira
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
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João Tiago Guimarães
João Tiago Guimarães
Department of Clinical Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal
Department of Biomedicine, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
EPIUnit – Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal
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Department of Biomedicine, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
EPIUnit – Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal
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Davide Carvalho
Davide Carvalho
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal
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Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal
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Adelino Leite-Moreira
Adelino Leite-Moreira
Unidade de Investigação Cardiovascular, Departamento de Cirurgia e Fisiologia, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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Ana Azevedo
Ana Azevedo
EPIUnit – Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal
Departamento de Ciências da Saúde Pública e Forenses e Educação Médica, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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Departamento de Ciências da Saúde Pública e Forenses e Educação Médica, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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studies have suggested that TSH may also have direct effects on heart and vessels [ 35 - 37 ]. In the myocardium, thyroid hormone stimulates channels and transporters involved in calcium fluxes, improving both contraction and relaxation. Thyroid hormone
Kaoru Kobayashi
Kaoru Kobayashi
Kuma Hospital, Kobe City, Hyogo, Japan
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Mitsuyoshi Hirokawa
Mitsuyoshi Hirokawa
Kuma Hospital, Kobe City, Hyogo, Japan
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Tomonori Yabuta
Tomonori Yabuta
Kuma Hospital, Kobe City, Hyogo, Japan
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Mitsuhiro Fukushima
Mitsuhiro Fukushima
Kuma Hospital, Kobe City, Hyogo, Japan
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Minoru Kihara
Minoru Kihara
Kuma Hospital, Kobe City, Hyogo, Japan
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Yuuki Takamura
Yuuki Takamura
Kuma Hospital, Kobe City, Hyogo, Japan
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Yasuhiro Ito
Yasuhiro Ito
Kuma Hospital, Kobe City, Hyogo, Japan
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Akihiro Miya
Akihiro Miya
Kuma Hospital, Kobe City, Hyogo, Japan
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Nobuyuki Amino
Nobuyuki Amino
Kuma Hospital, Kobe City, Hyogo, Japan
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Akira Miyauchi
Akira Miyauchi
Kuma Hospital, Kobe City, Hyogo, Japan
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ultrasonography without performing cytological examination at another hospital. The serum concentration of thyroid-stimulating hormone was 2.4 μIU/ml (reference range 0.3-5.0), free thyroxine 0.98 ng/dl (0.70-1.60), and thyroglobulin 80.4 ng/ml (<35
Tanja Diana
Tanja Diana
Molecular Thyroid Research Laboratory, Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany
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Christian Wüster
Christian Wüster
Endocrine Laboratory Prof. Wüster, Mainz, Germany
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Paul D. Olivo
Paul D. Olivo
Department of Microbiology, Washington University, St. Louis, Missouri, USA
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Angelica Unterrainer
Angelica Unterrainer
Molecular Thyroid Research Laboratory, Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany
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Jochem König
Jochem König
Endocrine Laboratory Prof. Wüster, Mainz, Germany
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Michael Kanitz
Michael Kanitz
Molecular Thyroid Research Laboratory, Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany
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Artur Bossowski
Artur Bossowski
Department of Pediatrics, Endocrinology, and Diabetology, Medical University of Byalistok, Bialystok, Poland
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Brigitte Decallonne
Brigitte Decallonne
Division of Clinical and Experimental Endocrinology, UZ Leuven, Leuven, Belgium
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George J. Kahaly
George J. Kahaly
Molecular Thyroid Research Laboratory, Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany
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Introduction Antibodies (Ab) to the thyroid-stimulating hormone receptor (TSHR) may mimic [ 1 - 3 ] or block [ 4 ] the action of TSH or be functionally neutral [ 5 ]. TSHR stimulating Ab (TSAb) are responsible for many of the clinical
Véronique Raverot
Véronique Raverot
Hospices Civils de Lyon, Groupement Hospitalier Est, LBMMS, Centre de biologie et de pathologie Est, Lyon, France
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Stéphanie Metrat
Stéphanie Metrat
Hospices Civils de Lyon, Groupement Hospitalier Est, LBMMS, Centre de biologie et de pathologie Est, Lyon, France
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Pauline Perrin
Pauline Perrin
Hospices Civils de Lyon, Groupement Hospitalier Est, LBMMS, Centre de biologie et de pathologie Est, Lyon, France
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Juliette Abeillon
Juliette Abeillon
Hospices Civils de Lyon, Groupement Hospitalier Est, Fédération d’Endocrinologie, Lyon, France
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Hélène Lasolle
Hélène Lasolle
Hospices Civils de Lyon, Groupement Hospitalier Est, Fédération d’Endocrinologie, Lyon, France
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Introduction Diagnosis of thyroid disease is based on thyroid-stimulating hormone (TSH) measurement. Occasionally, this measurement may be erroneous due to analytical interference. Clinical biochemists and clinicians need to be aware of this
Marta Nascimento Soares
Marta Nascimento Soares
Faculty of Medicine of the University of Porto, Porto, Portugal
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Marta Borges-Canha
Marta Borges-Canha
Faculty of Medicine of the University of Porto, Porto, Portugal
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Department of Surgery and Physiology, Cardiovascular Research Unit, Faculty of Medicine from the University of Porto, Porto, Portugal
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Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Department of Surgery and Physiology, Cardiovascular Research Unit, Faculty of Medicine from the University of Porto, Porto, Portugal
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Celestino Neves
Celestino Neves
Faculty of Medicine of the University of Porto, Porto, Portugal
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Institute for Research Innovation in Health, University of Porto, Porto, Portugal
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Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Institute for Research Innovation in Health, University of Porto, Porto, Portugal
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João Sérgio Neves
João Sérgio Neves
Faculty of Medicine of the University of Porto, Porto, Portugal
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Department of Surgery and Physiology, Cardiovascular Research Unit, Faculty of Medicine from the University of Porto, Porto, Portugal
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Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Department of Surgery and Physiology, Cardiovascular Research Unit, Faculty of Medicine from the University of Porto, Porto, Portugal
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Davide Carvalho
Davide Carvalho
Faculty of Medicine of the University of Porto, Porto, Portugal
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Institute for Research Innovation in Health, University of Porto, Porto, Portugal
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Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Institute for Research Innovation in Health, University of Porto, Porto, Portugal
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outcomes The following parameters were collected from the patients’ clinical records: sex, age, age at diagnosis of Graves' disease, initial TRAbs, free tri-iodothyronine (FT3), free thyroxine (FT4), thyroid stimulating hormone (TSH), height, weight
