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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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Sandra M. McLachlan Thyroid Autoimmune Disease Unit, Cedars-Sinai Research Institute, Los Angeles, California, USA
UCLA School of Medicine, University of California, Los Angeles, California, USA

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Holly A. Aliesky Thyroid Autoimmune Disease Unit, Cedars-Sinai Research Institute, Los Angeles, California, USA

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Priscilla Garcia Thyroid Autoimmune Disease Unit, Cedars-Sinai Research Institute, Los Angeles, California, USA

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Bianca Banuelos Thyroid Autoimmune Disease Unit, Cedars-Sinai Research Institute, Los Angeles, California, USA

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Basil Rapoport Thyroid Autoimmune Disease Unit, Cedars-Sinai Research Institute, Los Angeles, California, USA
UCLA School of Medicine, University of California, Los Angeles, California, USA

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, Leger J, Simon-Carre A, Lyonnet S, Pelet A, Czernichow P, Polak M: Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatr Res 2005; 57: 908–913. 39

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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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reported incidence of 1 in 3600 live-born children in the Netherlands ( 11 ). Primary CH is mostly (80–85% of the cases) caused by thyroid dysgenesis, a group of entities including absence (thyroid agenesis), misplacement (thyroid ectopy) and hypoplastic

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Selwan Khamisi Department of Endocrinology and Diabetes, Uppsala University, Uppsala, Sweden

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Peter Lindgren Women's and Children's Health, University Hospital, Uppsala University, Uppsala, Sweden

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F. Anders Karlsson Department of Endocrinology and Diabetes, Uppsala University, Uppsala, Sweden

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critical for thyroid hormone production, e.g. the sodium/iodide transporter, thyroid peroxidase, thyroid oxidase 2, thyroglobulin, and dehalogenase. About 80% of congenital hypothyroidism is not accompanied by goiter but due to thyroid dysgenesis. In this

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Marek Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Nelly Sabbaghian Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Québec, Canada

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Leanne de Kock Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada

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William D. Foulkes Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada

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largely been due to the number of patients examined in each study. A prevalence of 8% of ectopic thymus occurring in young children with congenital hypothyroidism related to thyroid dysgenesis was reported [ 16 ]. For these patients, abnormal thymus

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L.C. Cardoso-Weide Departamento de Patologia, Faculdade de Medicina, Universidade Federal Fluminense (UFF), Niterói, Brazil

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R.C. Cardoso-Penha Laboratório de Fisiologia Endócrina Doris Rosenthal, IBCCF, Brazil

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M.W. Costa Australian Regenerative Medicine Institute, Monash University, Melbourne, Vic., Australia

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A.C.F. Ferreira NUMPEX, Polo de Xerém, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil

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D.P. Carvalho Laboratório de Fisiologia Endócrina Doris Rosenthal, IBCCF, Brazil

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P.S. Santisteban Instituto de Investigaciones Biomédicas Alberto Sols, Spanish Council of Research-Universidad Autónoma de Madrid, Madrid, Spain

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the mechanisms involved in the regulation of this gene. Thus, the present study describes the effect of the main thyroid regulators and the role of transcriptional factors (TF) involved in thyroid dysgenesis on human thyroid DuOx2 promoter activity

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Tiziana de Filippis Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Federica Marelli Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Maria Cristina Vigone Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Marianna Di Frenna Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Giovanna Weber Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Luca Persani Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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and thyroid dysgenesis [ 16 , 17 , 18 , 19 ]. Conclusions We identified novel heterozygous NKX2-1 frameshift mutations in 2 patients with atypical phenotypes of BLT syndrome: choreoathetosis associated with discrepant thyroid phenotypes

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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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(NIS), IYD and SLC26A7 . Also, monoallelic variants in DUOX2 and DUOXA2 can cause TCH. Thyroid dysgenesis (TD), now responsible for 60–65% of primary CH, refers to a phenotypic spectrum of aberrant thyroid gland development and includes athyreosis

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Giorgio Radetti Marienklinik, Bolzano, Italy

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Franco Rigon Department of Paediatrics, University of Padua, Padua, Italy

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Alessandro Salvatoni Department of Medicine and Surgery, University of Insubria, Varese, Italy

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Irene Campi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Tiziana De Filippis Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Valentina Cirello Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Silvia Longhi Department of Paediatrics, Regional Hospital of Bolzano, Bolzano, Italy

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Fabiana Guizzardi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy

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Marco Bonomi Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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Luca Persani Division of Endocrine and Metabolic Diseases and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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. ( https://doi.org/10.1530/EJE-14-0621 ) 4 Grasberger H Ringkananont U Croxson M Refetoff S . Resistance to thyroid hormone in a patient with thyroid dysgenesis . Thyroid 2005 15 730 – 733 . ( https://doi.org/10.1089/thy.2005.15.730 ) 5

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

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Regulation of Thyroid Hormone Action Hypothalamic-Pituitary-Thyroid Axis The thyroid gland produces mainly the pro-hormone T4 (3,5,3′,5′- L -tetraiodothyronine, thyroxine) but also secretes smaller amounts of the active hormone T3 (3

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