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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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hypothyroidism with high TSH (>200 mU/l) and low FT 4 serum levels (0.2 ng/dl, normal range for age 1.78-4.2 ng/dl) [ 11 ]. Thyroid 99 Tc scintigraphy and US scan revealed a lingual thyroid ectopy, therefore L- T 4 replacement therapy was introduced on the 9

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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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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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might manifest as either athyreosis, thyroid ectopy, hypoplasia or hemiagenesis [ 3 , 4 ]. All these phenotypes are considered to result from defects in embryonic thyroid development. The molecular mechanisms underlying TD in human newborns, however

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