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  • Hypothyroidism x
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Anita Boelen Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands

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Nitash Zwaveling-Soonawala Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands

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Annemieke C Heijboer Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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A S Paul van Trotsenburg Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands

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) program in the Netherlands. CH is characterized by low blood thyroid hormone (TH) concentrations. When caused by defective thyroid gland development or TH synthesis (primary or thyroidal CH), typically an increased secretion of thyrotropin

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Cengiz Kara Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey
Department of Pediatric Endocrinology, Faculty of Medicine, Istinye University, Istanbul, Turkey

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Jamala Mammadova Pediatric Endocrinology Unit, Altinbas University Medicalpark Bahçelievler Hospital, Istanbul, Turkey

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Ümmet Abur Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey
Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

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Cagri Gumuskaptan Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey
Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

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Elif İzci Güllü Department of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

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Ayhan Dağdemir Department of Molecular Medicine, Institute of Graduate Studies, Ondokuz Mayis University, Samsun, Turkey

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Murat Aydın Department of Pediatric Endocrinology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey

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). Primary CH with GIS (GIS-CH) is caused by dyshormonogenesis, defects of hormone synthesis within normally located, sometimes goitrous thyroid gland. It is usually due to autosomal recessive mutations in TG, TPO, DUOX2, DUOXA2, SLC26A4 (Pendrin), SLC5A5

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Jorge Alberto Tapia-Martínez Laboratorio de Metabolismo I, Departamento de Fisiología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Colonia Unidad Profesional Adolfo López Mateos, Delegación Gustavo A. Madero, Ciudad de México, México
Laboratorio 6, Departamento de Farmacobiología, Centro de Investigación y de Estudios Avanzados-Instituto Politécnico Nacional, Delegación Tlalpan, Ciudad de México, México

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Margarita Franco-Colín Laboratorio de Metabolismo I, Departamento de Fisiología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Colonia Unidad Profesional Adolfo López Mateos, Delegación Gustavo A. Madero, Ciudad de México, México

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Vanessa Blas-Valdivia Laboratorio de Neurobiología, Departamento de Fisiología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Colonia Unidad Profesional Adolfo López Mateos, Delegación Gustavo A. Madero, Ciudad de México, México

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Edgar Cano-Europa Laboratorio de Metabolismo I, Departamento de Fisiología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Colonia Unidad Profesional Adolfo López Mateos, Delegación Gustavo A. Madero, Ciudad de México, México

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a change in the thyroid gland’s function ( 12 , 15 ). These conditions could be seen severely increased when a hypercaloric diet is administered because it induces epigenetic methylation patterns in adipocyte-associated metabolic dysfunction ( 16

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Frederick Keen Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Anuja Chalishazar Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Kelly Mitchem Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Alan Dodd Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Atul Kalhan Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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normal thyroid gland due to impaired thyrotropin (TSH) levels. In contrast to primary hypothyroidism (which remains one of the most common endocrine disorders in clinical practice), CeH remains relatively rare, with an estimated prevalence of 1 in 16

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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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dominant-negative variant (red) able to interfere with TSHR dimers/oligomerization. The functions of the receptor are only slightly impaired and the thyroid gland is normal. Moderate TSH resistance is caused by biallelic TSHR variants ( 43

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Hicham Benabdelkamel Proteomics Resource Unit, Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Malak A Jaber Pharmaceutical Medicinal Chemistry & Pharmacognosy, Faculty of Pharmacy and Medical Sciences, University of Petra, Amman, Jordan

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Lina A Dahabiyeh Division of Pharmaceutical Sciences, School of Pharmacy, The University of Jordan, Amman, Jordan

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Afshan Masood Proteomics Resource Unit, Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Reem H Almalki Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Department of Botany and Microbiology, College of Science, King Saud University, Riyadh, Saudi Arabia

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Mohthash Musambil Proteomics Resource Unit, Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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Anas M Abdel Rahman Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Department of Medicine, College of Medicine and King Saud Medical City, King Saud University, Riyadh, Saudi Arabia

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Assim A Alfadda Proteomics Resource Unit, Obesity Research Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia
Department of Biochemistry and Molecular Medicine, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

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(T 3 ) are the main hormones released by the thyroid gland ( 1 ). The hypothalamus and anterior pituitary gland produce and release several hormones that work synchronously to maintain the proper feedback mechanisms and homeostasis of T 4 and T 3 in

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Camilla Bøgelund Larsen Department of Endocrinology, Odense University Hospital, Denmark
Department of Clinical Research, University of Southern Denmark, Odense, Denmark

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Kristian Hillert Winther Department of Clinical Research, University of Southern Denmark, Odense, Denmark

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Per Karkov Cramon Department of Clinical Physiology and Nuclear Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark

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Åse Krogh Rasmussen Department of Endocrinology and Metabolism, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark

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Ulla Feldt-Rasmussen Department of Endocrinology and Metabolism, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
Institute of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark

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Nils Jakob Knudsen Department of Endocrinology, Bispebjerg University Hospital, Copenhagen, Denmark

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Jakob Bue Bjorner Department of Public Health, Copenhagen University, Copenhagen, Denmark
QualityMetric Inc, Johnston, Lincoln, Rhode Island, USA

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Lutz Schomburg Institute for Experimental Endocrinology, Charité Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Kamil Demircan Institute for Experimental Endocrinology, Charité Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Thilo Samson Chillon Institute for Experimental Endocrinology, Charité Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Jeppe Gram Medical Department, Endocrinology, University Hospital of South-West Jutland, Esbjerg, Denmark

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Stinus Gadegaard Hansen Medical Department, Endocrinology, University Hospital of South-West Jutland, Esbjerg, Denmark

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Frans Brandt Department of Clinical Research, University of Southern Denmark, Odense, Denmark
Internal Medicine Research Unit, University Hospital of Southern Jutland, Aabenraa, Denmark

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Birte Nygaard Department of Endocrinology, Herlev and Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark

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Torquil Watt Department of Endocrinology and Metabolism, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
Institute of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark

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Laszlo Hegedüs Department of Endocrinology, Odense University Hospital, Denmark
Department of Clinical Research, University of Southern Denmark, Odense, Denmark

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Steen Joop Bonnema Department of Endocrinology, Odense University Hospital, Denmark
Department of Clinical Research, University of Southern Denmark, Odense, Denmark

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Introduction Autoimmune thyroiditis (AIT) is the leading cause of hypothyroidism in iodine-sufficient countries ( 1 ). AIT is characterised by lymphocytic infiltration of the thyroid gland and the presence of autoantibodies against thyroid

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Aurore Geslot Department of Endocrinology and metabolic diseases, CHU Larrey, Toulouse, France

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Frédérique Savagner Laboratory of Biochemistry, CHU Purpan, Toulouse, France

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Philippe Caron Department of Endocrinology and metabolic diseases, CHU Larrey, Toulouse, France

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the presence of anti-T3 antibodies to explain the increased FT3 concentration. In an ultrasound scan, the thyroid gland was hypertrophic but homogeneous. The father suffered from hemorrhagic recto-colitis and had a heart attack at the age of 41 years

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Ladan Mehran Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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Atieh Amouzegar Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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Hengameh Abdi Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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Negar Delbari Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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Elham Madreseh Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran

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Maryam Tohidi Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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Mohammad Ali Mansournia Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran

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Fereidoun Azizi Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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. We conclude that MetS is not associated with thyroid hypofunction considering other important confounders such as age, sex, smoking, BMI, and TPOAb positivity. Also, there is no cumulative effect of MetS over time on thyroid gland to cause any

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Tal Almagor Pediatric Endocrine Institute, Ha’Emek Medical Center, Afula, Israel
Pediatric Department B, Ha’Emek Medical Center, Afula, Israel
Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel

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Shoshana Rath Pediatric Endocrine Institute, Ha’Emek Medical Center, Afula, Israel

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Dan Nachtigal Department of Otolaryngology, Head and Neck Surgery, Ha’Emek Medical Center, Afula, Israel

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Zohara Sharroni Department of Otolaryngology, Head and Neck Surgery, Ha’Emek Medical Center, Afula, Israel

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Ghadir Elias-Assad Pediatric Endocrine Institute, Ha’Emek Medical Center, Afula, Israel
Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel

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Ora Hess Pediatric Endocrine Institute, Ha’Emek Medical Center, Afula, Israel

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Gilad Havazelet Clalit Health Services, North District, Israel

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Yoav Zehavi Pediatric Department B, Ha’Emek Medical Center, Afula, Israel

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Ronen Spiegel Pediatric Department B, Ha’Emek Medical Center, Afula, Israel
Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel

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Dani Bercovich Faculty of Medical Science, Tel Hai Academic College Upper Galilee, Tel Hai, Israel
GGA – Galil Genetic Analysis Laboratory Ltd., Kazerin, Israel

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Shlomo Almashanu The National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Israel

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Yardena Tenenbaum-Rakover Pediatric Endocrine Institute, Ha’Emek Medical Center, Afula, Israel
Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel

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hearing loss (3.42 vs. 5.34 μg/dL, p = 0.095) (Table  2 ). The etiology of CH was variable among patients with HI: those with conductive hearing loss had ectopic thyroid gland (6 patients), TPO mutation (4 patients), thyroid agenesis (1 patient), TSHR

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