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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

Article Type:
Research Article
Collections:
Hypothalamus-pituitary-thyroid axis
DOI:
https://doi.org/10.1530/ETJ-23-0054
Volume/Issue:
Volume 13: Issue 1
Open access
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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Introduction Thyroid-stimulating hormone (TSH) belongs to the glycoprotein hormone family, whose members harbor the shared α subunit and a unique β subunit. The TSH β subunit, encoded by human TSHB , is a protein of 138 amino acids, that is

Article Type:
Research Article
Collections:
Hypothalamus-pituitary-thyroid axis
DOI:
https://doi.org/10.1530/ETJ-21-0072
Volume/Issue:
Volume 11: Issue 1
Open access