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  • Central congenital hypothyroidism x
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João Anselmo Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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Carolina M. Chaves Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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congenital hypothyroidism due to genetic defects or iodine deficiency. If left untreated, these children develop mental retardation and failure to thrive, resulting in a clinical condition known for centuries as cretinism [ 1 ]. Earlier in the past century

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Tomasz Bednarczuk Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Warsaw, Poland

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Thomas H. Brix Department of Endocrinology and Metabolism, Odense University Hospital, Odense, Denmark

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Wolfgang Schima Department of Diagnostic and Interventional Radiology, Goettlicher Heiland Krankenhaus, Barmherzige Schwestern Krankenhaus, and Sankt Josef Krankenhaus, Vienna, Austria

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Georg Zettinig Schilddruesenpraxis Josefstadt, Vienna, Austria

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George J. Kahaly Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany

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, Addis CJ , . Hypothyroidism in infants with congenital heart disease exposed to excess iodine . J Endocr Soc . 2017 Aug ; 1 ( 8 ): 1067 – 78 . http://dx.doi.org/10.1210/js.2017-00174 . 77 Cherella CE , Breault DT , Thaker V

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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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, Christ S, Heuer H, Schafer MK, Mansouri A, Bauer K, Visser TJ: Regulation of iodothyronine deiodinases in the Pax8 –/– mouse model of congenital hypothyroidism. Endocrinology 2003;144:777–784. 10.1210/en.2002-220715 59 Trajkovic-Arsic M, Visser

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Maria Lopes-Pereira Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
Hospital de Braga, Braga, Portugal

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Anna Quialheiro Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal

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Patrício Costa Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal

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Susana Roque Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal

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Nadine Correia Santos Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
ACMP5 – Associação Centro de Medicina P5 (P5), School of Medicine, University of Minho, Braga, Portugal

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Margarida Correia-Neves Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal

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Ana Goios Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal

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Ivone Carvalho Newborn Screening, Metabolism & Genetics Unit, National Institute of Health Dr Ricardo Jorge, Porto, Portugal

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Tim I M Korevaar Academic Center for Thyroid Diseases, Erasmus MC, Rotterdam, the Netherlands
Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands
The Generation R Study Group, Erasmus MC, University Medical Center, Rotterdam, the Netherlands

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Laura Vilarinho Newborn Screening, Metabolism & Genetics Unit, National Institute of Health Dr Ricardo Jorge, Porto, Portugal

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Joana Almeida Palha Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
Clinical Academic Center-Braga (2CA-B), Braga, Portugal

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of such finding and on its relationship with dosage and/or timing of initiation of iodine supplements intake. The incidence of congenital hypothyroidism in Portugal is of 1:2892 newborns and we observed only two cases of suspected congenital

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Victor J M Pop Department of Medical Psychology, Tilburg University, The Netherlands

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Johannes G Krabbe Department of Clinical Chemistry and Laboratory Medicine, Medisch Spectrum Twente, Medlon BV, Enschede, The Netherlands

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Maarten Broeren Department of Clinical Chemistry, Maxima Medical Centre, Veldhoven, The Netherlands

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Wilmar Wiersinga Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, The Netherlands

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Margaret P Rayman Department of Nutritional Sciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, UK

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and FT4 ( 6 ). Although the relationship between iron deficiency and hypothyroidism has repeatedly been demonstrated, its association with IH has hardly been investigated. An important alternative source modulating FT4 concentrations is the human

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Laura Tosatto Human Technopole, Milano, Italy

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Francesca Coscia Human Technopole, Milano, Italy

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hamper Tg folding and are associated with ER stress and congenital hypothyroidism (CH) ( 15 , 19 ). In addition, disulfide bonds are a major inter-molecular Tg cross-link stabilizing the colloid; these reactions are likely catalysed by the internal

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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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presented intellectual disability in childhood that resembles congenital hypothyroidism ( 6 ). Although treatment with THs leads to improvements in certain clinical phenotypes of patients with RTHα, including constipation and problems with nerve conduction

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Robert Opitz Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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Francesco Antonica Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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Sabine Costagliola Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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Introduction Congenital hypothyroidism (CH) represents the most common congenital endocrine disorder in humans affecting approximately 1 of 2,000-4,000 live births [ 1 , 2 ]. The majority of CH cases are due to thyroid dysgenesis (TD), which

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