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Kevin Stroek
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
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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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
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
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
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
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
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
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
Anita Boelen
Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
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). CH-C, central congenital hypothyroidism; FP, false-positive; NBS, newborn screening; RI, reference interval; T4, thyroxine; TBG, thyroxine-binding globulin. All CH-C patients had a TBG concentration within or above the TBG RI, except for one
Anita Boelen
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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Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
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Nitash Zwaveling-Soonawala
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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Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
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Annemieke C Heijboer
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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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
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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Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
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affected to some degree. Central congenital hypothyroidism Central CH results from insufficient hypothalamic and/or pituitary stimulation of an otherwise normal thyroid gland resulting in low serum TH concentrations. The majority of central
Yalan Hu
Yalan Hu
Y Hu, Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC Locatie AMC, Amsterdam, 1105 AZ , Netherlands
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Lorraine Soares De Oliveira
Lorraine Soares De Oliveira
L Soares De Oliveira, Department of Medicine, Boston Medical Center, Boston, United States
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Kim Falize
Kim Falize
K Falize, Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC Locatie AMC, Amsterdam, Netherlands
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A S Paul van Trotsenburg
A S Paul van Trotsenburg
A van Trotsenburg, Department of Pediatric Endocrinology. Emma children’s hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Amsterdam UMC Location AMC, Amsterdam, Netherlands
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Eric Fliers
Eric Fliers
E Fliers, Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Amsterdam UMC Location AMC, Amsterdam, Netherlands
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Joseph E Kaserman
Joseph E Kaserman
J Kaserman, Center for Regenerative Medicine (CReM) of Boston University and Boston Medical Center, Boston Medical Center, Boston, United States
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Andrew A Wilson
Andrew A Wilson
A Wilson, Center for Regenerative Medicine (CReM) of Boston University and Boston Medical Center, Boston Medical Center, Boston, United States
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Anthony N Hollenberg
Anthony N Hollenberg
A Hollenberg, Department of Medicine, Boston Medical Center, Boston, United States
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Eveline Bruinstroop
Eveline Bruinstroop
E Bruinstroop, Endocrinology and Metabolism, Amsterdam UMC Locatie AMC, Amsterdam, Netherlands
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Anita Boelen
Anita Boelen
A Boelen, Department of Laboratory Medicine, University of Amsterdam, Amsterdam, 1000 GG, Netherlands
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Background:
Mutations in TBL1X, part of the NCoR1/SMRT corepressor complex, were identified in patients with hereditary X-linked central congenital hypothyroidism and associated hearing loss. The role of TBL1X in thyroid hormone (TH) action, however, is incompletely understood. The aim of the present study was to investigate the role of TBL1X on T3 regulated gene expression in two human liver cell models.
Methods:
A human hepatoma cell line (HepG2) wherein TBL1X was down regulated using siRNAs, and human-induced pluripotent stem cell-derived hepatocytes (iHeps) generated from individuals with a TBL1X N365Y mutation. Both cell types were treated with increasing concentrations of T3. The expression of T3 regulated genes was measured by qPCR.
Results:
KLF9, CPT1A and PCK1 mRNA expression was higher upon T3 stimulation in the HepG2 cells with decreased TBL1X expression compared to controls, while DIO1 mRNA expression was lower. Hemizygous TBL1X N365Y iHeps exhibited decreased expression of CPT1A, G6PC1, PCK1, FBP1 and ELOVL2 compared to cells with the heterozygous TBL1X N365Y, but KLF9 and HMGCS2 expression was unaltered.
Conclusion:
Downregulation of TBL1X in HepG2 cells and the TBL1X N365Y variant in iHeps have differential effects on T3 regulated gene expression. This suggests that TBL1X may play a gene context role in thyroid hormone TH action.
Heleen I Jansen
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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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
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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Department of Computer Science, Vrije Universiteit, Boelelaan, Amsterdam, The Netherlands
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Marelle J Bouva
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
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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Amsterdam Public Health, Amsterdam, The Netherlands
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Eveline Bruinstroop
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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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
Catharina P B van der Ploeg
TNO - Child Health, Sylviusweg, Leiden, The Netherlands
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A S Paul van Trotsenburg
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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Department of Paediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
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Nitash Zwaveling-Soonawala
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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Department of Paediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands
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Annemieke C Heijboer
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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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
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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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
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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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
Mark Hoogendoorn
Department of Computer Science, Vrije Universiteit, Boelelaan, Amsterdam, The Netherlands
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Anita Boelen
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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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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central congenital hypothyroidism by using 95% reference intervals for thyroxine-binding globulin . European Thyroid Journal 2021 10 222 – 229 . ( https://doi.org/10.1159/000513516 ) 4 Boelen A Zwaveling-Soonawala N Heijboer AC & van Trotsenburg
Hiroyuki Iwaki
Hiroyuki Iwaki
Division of Endocrinology, Department of Internal Medicine, Seirei Hamamatsu General Hospital, Hamamatsu, Japan
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Kenji Ohba
Kenji Ohba
Medical Education Center, Hamamatsu University School of Medicine, Hamamatsu, Japan
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Eisaku Okada
Eisaku Okada
Department of Community Health and Preventive Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan
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Takeshi Murakoshi
Takeshi Murakoshi
Obstetrics and Gynecology, Maternal and Perinatal Care Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan
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Yumiko Kashiwabara
Yumiko Kashiwabara
Division of Endocrinology, Department of Internal Medicine, Seirei Hamamatsu General Hospital, Hamamatsu, Japan
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Chiga Hayashi
Chiga Hayashi
Division of Endocrinology, Department of Internal Medicine, Seirei Hamamatsu General Hospital, Hamamatsu, Japan
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Akio Matsushita
Akio Matsushita
Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan
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Shigekazu Sasaki
Shigekazu Sasaki
Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan
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Takafumi Suda
Takafumi Suda
Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan
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Yutaka Oki
Yutaka Oki
Department of Metabolism and Endocrinology, Hamamatsu-Kita Hospital, Hamamatsu, Japan
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Rieko Gemma
Rieko Gemma
Division of Endocrinology, Department of Internal Medicine, Seirei Hamamatsu General Hospital, Hamamatsu, Japan
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range treated with low-dosage ATDs. The undertreatment of maternal hyperthyroidism has been reported to result in central congenital hypothyroidism [ 20 ]. Accordingly, we propose to replace the present statement in the guidelines with the following
Claire L Wood
Claire L Wood
Department of Paediatric Endocrinology, Great North Children’s Hospital, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
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Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
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Niamh Morrison
Niamh Morrison
Department of Paediatric Endocrinology, Great North Children’s Hospital, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK
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Michael Cole
Michael Cole
Population Health Sciences Institute, Newcastle University, Baddiley-Clark Building, Newcastle upon Tyne, UK
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Malcolm Donaldson
Malcolm Donaldson
Department of Child Health, University of Glasgow School of Medicine, Glasgow, UK
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David B Dunger
David B Dunger
Department of Paediatrics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK
Wellcome Trust-MRC Institute of Metabolic Sciences, University of Cambridge, Cambridge, UK
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Wellcome Trust-MRC Institute of Metabolic Sciences, University of Cambridge, Cambridge, UK
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Ruth Wood
Ruth Wood
Newcastle Clinical Trials Unit, Newcastle University, Newcastle upon Tyne, UK
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Simon H S Pearce
Simon H S Pearce
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
Department of Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK
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Department of Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK
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Timothy D Cheetham
on behalf of the British Society for Paediatric Endocrinology and Diabetes (BSPED)
Timothy D Cheetham
Department of Paediatric Endocrinology, Great North Children’s Hospital, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
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Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
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Wiedijk BM Endert E de Vijlder JJ Vulsma T . Disturbance of the fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism . Journal of Clinical Endocrinology and Metabolism 2005 90
Giorgio Radetti
Giorgio Radetti
Marienklinik, Bolzano, Italy
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Franco Rigon
Franco Rigon
Department of Paediatrics, University of Padua, Padua, Italy
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Alessandro Salvatoni
Alessandro Salvatoni
Department of Medicine and Surgery, University of Insubria, Varese, Italy
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Irene Campi
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
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
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
Silvia Longhi
Department of Paediatrics, Regional Hospital of Bolzano, Bolzano, Italy
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Fabiana Guizzardi
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
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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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Luca Persani
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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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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congenital hypothyroidism . Journal of Clinical Endocrinology and Metabolism 2005 90 4094 – 4100 . ( https://doi.org/10.1210/jc.2005-0197 ) 3 Bagattini B Cosmo CD Montanelli L Piaggi P Ciampi M Agretti P Marco GD Vitti P Tonacchera M
Emilie Brûlé
Emilie Brûlé
Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada
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Xiang Zhou
Xiang Zhou
Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada
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Ying Wang
Ying Wang
Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada
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Evan R S Buddle
Evan R S Buddle
Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada
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Luisina Ongaro
Luisina Ongaro
Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada
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Mary Loka
Mary Loka
Integrated Program in Neuroscience, McGill University, Montreal, Quebec, Canada
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Anita Boelen
Anita Boelen
Endocrine Laboratory, Department of Laboratory Medicine, University of Amsterdam, Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands
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Daniel J Bernard
Daniel J Bernard
Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada
Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada
Integrated Program in Neuroscience, McGill University, Montreal, Quebec, Canada
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Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada
Integrated Program in Neuroscience, McGill University, Montreal, Quebec, Canada
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authors reviewed the manuscript and approved it for submission. References 1 Lauffer P Zwaveling-Soonawala N Naafs JC Boelen A & van Trotsenburg ASP . Diagnosis and management of central congenital hypothyroidism . Frontiers in
Luca Persani
Luca Persani
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Georg Brabant
Georg Brabant
Experimental and Clinical Endocrinology Medical Clinic I – University of Lübeck, Lübeck, Germany
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Mehul Dattani
Mehul Dattani
Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, London, United Kingdom
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Marco Bonomi
Marco Bonomi
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Ulla Feldt-Rasmussen
Ulla Feldt-Rasmussen
Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
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Eric Fliers
Eric Fliers
Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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Annette Gruters
Annette Gruters
Department for Pediatric Endocrinology and Diabetes, Charité University Medicine, Berlin, Germany
University Hospital Heidelberg, Heidelberg, Germany
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University Hospital Heidelberg, Heidelberg, Germany
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Dominique Maiter
Dominique Maiter
Department of Endocrinology and Nutrition, UCL Cliniques Saint-Luc, Brussels, Belgium
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Nadia Schoenmakers
Nadia Schoenmakers
University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke’s Hospital and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, United Kingdom
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A.S. Paul van Trotsenburg
A.S. Paul van Trotsenburg
Department of Pediatric Endocrinology, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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–1565. 29 Koulouri O, Nicholas AK, Schoenmakers E, Mokrosinski J, Lane F, Cole T, Kirk J, Farooqi IS, Chatterjee VK, Gurnell M, Schoenmakers N: A novel thyrotropin-releasing hormone receptor missense mutation (P81R) in central congenital hypothyroidism. J
Irene Campi
Irene Campi
Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Marco Dell’Acqua
Marco Dell’Acqua
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Elisa Stellaria Grassi
Elisa Stellaria Grassi
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Maria Cristina Vigone
Maria Cristina Vigone
Department of Paediatrics, IRCCS San Raffaele Hospital, Milan, Italy
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Luca Persani
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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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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fetal thyroid hormone state has long-term consequences for treatment of thyroidal and central congenital hypothyroidism . Journal of Clinical Endocrinology and Metabolism 2005 90 4094 – 4100 . ( https://doi.org/10.1210/jc.2005-0197 ) 58 Radetti G
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