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  • Central congenital hypothyroidism x
  • Hypothalamus-pituitary-thyroid axis x
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Emilie Brûlé Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada

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Xiang Zhou Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada

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Ying Wang Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada

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Evan R S Buddle Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada

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Luisina Ongaro Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada

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Mary Loka Integrated Program in Neuroscience, McGill University, Montreal, Quebec, Canada

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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 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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Introduction Congenital central hypothyroidism (CCH) may affect as many as one in 13,000 people ( 1 ). In CCH, thyroid hormone levels are low to low-normal without the expected increases in thyrotropin (TSH), implicating defects in the brain

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David Shaki Pediatric Endocrinology Unit, Saban Pediatric Medical Center for Israel, Beer Sheva, Israel
Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel

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Marina Eskin-Schwartz Genetics Institute at Soroka University Medical Center and the Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel

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Noam Hadar Genetics Institute at Soroka University Medical Center and the Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel

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Emily Bosin Endocrinology Lab, Soroka University Medical Center, Beer Sheva, Israel

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Lior Carmon Pediatric Endocrinology Unit, Saban Pediatric Medical Center for Israel, Beer Sheva, Israel
Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel

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Samuel Refetoff Departments of Medicine and Pediatrics and the Committee on Genetics, The University of Chicago, Chicago, Illinois, USA

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Eli Hershkovitz Pediatric Endocrinology Unit, Saban Pediatric Medical Center for Israel, Beer Sheva, Israel
Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel

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Ohad S Birk Genetics Institute at Soroka University Medical Center and the Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel

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Alon Haim Pediatric Endocrinology Unit, Saban Pediatric Medical Center for Israel, Beer Sheva, Israel
Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel

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subsequently cleaved to result in a mature protein of 118 amino acids ( 1 ). TSHB mutations cause congenital non-goitrous hypothyroidism 4 (OMIM#275100), clinically presenting as profound central hypothyroidism, through loss of function mechanism. In

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