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Solène Castellnou Hospices Civils de Lyon, Groupement Hospitalier Est, Fédération d’Endocrinologie, Bron, France

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Patricia Bretones Service d’Endocrinologie Pédiatrique, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France

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Juliette Abeillon Hospices Civils de Lyon, Groupement Hospitalier Est, Fédération d’Endocrinologie, Bron, France

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Myriam Moret Hospices Civils de Lyon, Groupement Hospitalier Est, Fédération d’Endocrinologie, Bron, France

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Pauline Perrin Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Groupement Hospitalier Est, LBMMS, Bron, France

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Karim Chikh Centre de Biologie et de Pathologie Sud, Hospices Civils de Lyon, Groupement Hospitalier Sud, LBMMS, Saint Genis Laval, France

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Véronique Raverot Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Groupement Hospitalier Est, LBMMS, Bron, France

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Established Facts Maternal TSH receptor-blocking antibodies (TBAbs) are a known cause of transient congenital hypothyroidism. Novel Insights Congenital hypothyroidism due to TBAbs can occur in case of a normal concentration

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Shirley Langham Departments of Endocrinology, Great Ormond Street Hospital, Hospital for Children

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Peter Hindmarsh Developmental Endocrinology Research Group, Institute of Child Health, University College London, London, UK

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Steven Krywawych Departments of Chemical Pathology, Great Ormond Street Hospital, Hospital for Children

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Catherine Peters Departments of Endocrinology, Great Ormond Street Hospital, Hospital for Children
Developmental Endocrinology Research Group, Institute of Child Health, University College London, London, UK

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Introduction The newborn screening programme for CH was introduced in the UK in 1981 [ 1 , 2 ] and has virtually abolished cases of untreated congenital hypothyroidism (CH). CH is a common (1 in 3,000-4,000 live births) condition [ 3 , 4 ] in

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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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result in hearing impairment (HI) [ 1 - 3 ]. Deaf-mutism and HI are common in areas of iodine deficiency [ 4 ] and were reported in patients with congenital hypothyroidism (CH) prior to the implementation of thyroid neonatal screening in the 1980s [ 5

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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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stage causes congenital hypothyroidism that alters thyroid and metabolic programming. This idea is supported by the fetal origin of the metabolic diseases hypothesis ( 2 , 3 ). Thus, metabolic diseases have their origin during the early life stages when

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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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Introduction Congenital hypothyroidism (CH) is an inborn disorder of the endocrine system with potentially severe health consequences for the affected individual and was the second disorder to be included in the national newborn screening (NBS

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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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Introduction Primary congenital hypothyroidism (CH) is the most common endocrine disorder in newborns, with an incidence ranging from 1/1000 to 1/3000 worldwide ( 1 ). The incidence of CH has doubled over the last two decades largely due to

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Heleen I Jansen Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan, Amsterdam, The Netherlands
Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, The Netherlands
Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC location University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands

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Marije van Haeringen Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam UMC location University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
Department of Computer Science, Vrije Universiteit, Boelelaan, Amsterdam, The Netherlands

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Marelle J Bouva Reference Laboratory Neonatal Screening, Center for Health protection, National Institute for Public Health and the Environment, Bilthoven, The Netherlands

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Wendy P J den Elzen Department of Laboratory Medicine, Laboratory Specialized Diagnostics & Research, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
Amsterdam Public Health, Amsterdam, The Netherlands

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Eveline Bruinstroop Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, The Netherlands
Department of Endocrinology and Metabolism, Amsterdam UMC location University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands

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Catharina P B van der Ploeg TNO - Child Health, Sylviusweg, Leiden, The Netherlands

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

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

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

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Annet M Bosch Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, The Netherlands
Department of Pediatrics, Division of Metabolic Disorders, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands

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Robert de Jonge Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, The Netherlands
Department of Laboratory Medicine, Amsterdam UMC, Vrije Universiteit, Boelelaan, Amsterdam, The Netherlands
Department of Laboratory Medicine, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands

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Mark Hoogendoorn Department of Computer Science, Vrije Universiteit, Boelelaan, Amsterdam, The Netherlands

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

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Introduction Congenital hypothyroidism (CH), an inborn thyroid hormone (TH) deficiency, can be divided into primary (or thyroidal) CH and central (or secondary) CH. Primary CH is most prevalent and results from an un(der)developed thyroid

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Kevin Stroek Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands

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Annemieke C. Heijboer Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands

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Marja van Veen-Sijne Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands

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Annet M. Bosch Division of Metabolic Disorders, Department of Pediatrics, Emma Children’s Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands

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Catharina P.B. van der Ploeg Department of Child Health, Netherlands Organization for Applied Scientific Research TNO, Leiden, The Netherlands

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

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Robert de Jonge Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit & University of Amsterdam, Amsterdam, The Netherlands

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

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Anita Boelen Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands

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Introduction Congenital hypothyroidism (CH) is thyroid hormone deficiency at birth mostly caused by impaired development of the thyroid gland or hormone biosynthesis (primary or thyroidal CH, CH-T). A less frequent, but equally important cause

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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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disease), and congenital hypothyroidism (CH) of variable severity, associated either with athyreosis, hypoplasia or an apparently normal gland in situ [ 1 , 2 , 3 , 4 , 5 , 6 , 7 ], but not with ectopy as recently indicated also in the document of the CH

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Zohar Steinberg Ben-Zeev Pediatric Department A, Ha’Emek Medical Center, Afula, Israel

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Marina Peniakov Neonatal Intensive Care Unit, Ha’Emek Medical Center, Afula, Israel

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Clari Felszer Neonatal Intensive Care Unit, Ha’Emek Medical Center, Afula, Israel

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Scott A Weiner Neonatal Intensive Care Unit, Ha’Emek Medical Center, Afula, Israel

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Avishay Lahad Pediatric Department A, Ha’Emek Medical Center, Afula, Israel

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Shlomo Almashanu The National Newborn Screening Program, Ministry of Health, Tel Hashomer, Ramat Gan, Israel

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Yardena Tenenbaum Rakover Consulting Medicine in Pediatric Endocrinology, Clalit Health Services, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Institute of Technology, Haifa, Israel

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primary congenital hypothyroidism (CH) ( 17 , 18 ). The potential effects of maternal thyroid disease on offspring have led to the clinical practice of recommending serum thyroid function tests (TFT), including free T4 (FT4) and TSH, in infants born to

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