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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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) concentration in combination with an increased thyroid-stimulating hormone (TSH) concentration, while central CH is characterized by a low T4 concentration and a normal, decreased, or slightly elevated TSH concentration ( 1 ). The Dutch newborn screening (NBS

Article Type:
Research Article
Collections:
Pediatric thyroid diseases
DOI:
https://doi.org/10.1530/ETJ-23-0141
Volume/Issue:
Volume 12: Issue 6
Open access
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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is hypothalamic or pituitary dysfunction, named secondary or central CH (CH-C) [ 1 ]. Early detection and treatment of CH prevent neurodevelopmental disabilities. Therefore, CH has been included in many newborn screening (NBS) programs worldwide since

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000513516
Volume/Issue:
Volume 10: Issue 3
Open access
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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recommendation of maintaining TSH values in pregnant women below 2.5 mU/L ( 15 , 16 ). In most Western countries, newborn thyroid screening is standard, and its main purpose is to identify and initiate early supplemental thyroxine (T4) therapy in infants with

Article Type:
Research Article
Collections:
Thyroid and reproduction
DOI:
https://doi.org/10.1530/ETJ-22-0055
Volume/Issue:
Volume 11: Issue 4
Open access
Paolo Cavarzere Pediatric Division, Department of Pediatrics, University Hospital of Verona, Verona, Italy

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Laura Palma Pediatric Division, Department of Pediatrics, University Hospital of Verona, Verona, Italy

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Lara Nicolussi Principe Pediatric Division, Department of Pediatrics, University Hospital of Verona, Verona, Italy

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Monica Vincenzi Pediatric Section, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
Regional Center for Newborn Screening, Diagnosis and Treatment of Congenital Metabolic and Endocrinological Diseases, Verona, Italy

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Silvana Lauriola Neonatal Intensive Cure Unit, Department of Pediatrics, University Hospital of Verona, Verona, Italy

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Rossella Gaudino Pediatric Division, Department of Pediatrics, University Hospital of Verona, Verona, Italy
Pediatric Section, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy

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Virginia Murri Pediatric Division, Hospital of San Bonifacio, Verona, Italy

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Luigi Lubrano Pediatric Division, Hospital of Legnago, Verona, Italy

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Giuliana Rossi Pediatric Division, Hospital of Mestre, Venezia, Italy

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Alessia Sallemi Pediatric Division, Hospital of Venezia, Venezia, Italy

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Ermanna Fattori Pediatric Division, Hospital of Negrar, Verona, Italy

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Marta Camilot Pediatric Section, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
Regional Center for Newborn Screening, Diagnosis and Treatment of Congenital Metabolic and Endocrinological Diseases, Verona, Italy

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Franco Antoniazzi Pediatric Division, Department of Pediatrics, University Hospital of Verona, Verona, Italy
Pediatric Section, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
Regional Center for the Diagnosis and Treatment of Children and Adolescents Rare Skeletal Disorders, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy

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treatment lead to a false negative newborn screening result for CH, delaying the necessary replacement therapy? In particular, to avoid the latest, some authors have suggested to perform serum thyroid function tests between 15 and 30 days of life in all

Article Type:
Research Article
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1530/ETJ-22-0060
Volume/Issue:
Volume 11: Issue 5
Open access
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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at the Pediatric Endocrinology Institute, Ha’Emek Medical Center. The diagnosis of CH was based on abnormal thyroid function at birth; most patients were identified by the National Thyroid Newborn Screening Program. The etiology of the CH was

Article Type:
Research Article
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1159/000509775
Volume/Issue:
Volume 10: Issue 3
Free access
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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/vaginal delivery/instrumental delivery), Apgar score and newborn birth weight, length and cephalic perimeter. Newborn TSH levels, between 3rd and 6th day of life, were obtained from the National Neonatal Screening Programme; normal values were considered if <10 mU

Article Type:
Research Article
Collections:
Thyroid and reproduction
DOI:
https://doi.org/10.1530/ETJ-21-0035
Volume/Issue:
Volume 11: Issue 1
Open access
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

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000350039
Volume/Issue:
Volume 2: Issue 3
Free access
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

Article Type:
Review Article
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1530/ETJ-23-0041
Volume/Issue:
Volume 12: Issue 4
Open access
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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antibodies progressively disappear [ 3 ]. Newborn screening for hypothyroidism is recommended in numerous countries because of the severe neurologic prognosis of congenital hypothyroidism [ 4 ], which occurs in approximately 1/2,000–1/4,000 newborns [ 5

Article Type:
Case Report
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1159/000509015
Volume/Issue:
Volume 10: Issue 2
Free access
Juan Bernal
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-deficient regions of Spain and promoted salt iodization. They also established the program for the screening of congenital hypothyroidism in newborns. Prof. Escobar remained active until 2007 when he retired at the age of 84. He is survived by his spouse, Prof

Article Type:
Obituary
DOI:
https://doi.org/10.1159/000443677
Volume/Issue:
Volume 5: Issue 1
Free access