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Frederick Keen Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Anuja Chalishazar Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Kelly Mitchem Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Alan Dodd Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Atul Kalhan Royal Glamorgan Hospital, Ynysmaerdy, Llantrisant, UK

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Introduction Central hypothyroidism (CeH) is a heterogeneous disorder characterised by reduced thyroid hormone (TH) secretion due to pituitary and/or hypothalamic disorders. There is insufficient stimulation of TH secretion from an otherwise

Article Type:
Research Article
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1530/ETJ-21-0119
Volume/Issue:
Volume 11: Issue 2
Open access
Joke Marlier Department of Endocrinology, Ghent University Hospital, Ghent, Belgium

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Guy T’Sjoen Department of Endocrinology, Ghent University Hospital, Ghent, Belgium
Department of Internal Medicine & Pediatrics, Ghent University, Ghent, Belgium

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Jean Kaufman Department of Endocrinology, Ghent University Hospital, Ghent, Belgium
Department of Internal Medicine & Pediatrics, Ghent University, Ghent, Belgium

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Bruno Lapauw Department of Endocrinology, Ghent University Hospital, Ghent, Belgium
Department of Internal Medicine & Pediatrics, Ghent University, Ghent, Belgium

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Introduction Hypothyroidism indicates the pathological condition of thyroid hormone (TH) deficiency and when untreated, it can lead to severe health effects. Hypothyroidism can be categorised as primary (PHT) or central hypothyroidism (CHT

Article Type:
Research Article
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1530/ETJ-21-0128
Volume/Issue:
Volume 11: Issue 6
Open access
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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Georg Brabant Experimental and Clinical Endocrinology Medical Clinic I – University of Lübeck, Lübeck, Germany

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Mehul Dattani Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, London, United Kingdom

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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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Ulla Feldt-Rasmussen Department of Medical Endocrinology and Metabolism, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark

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Eric Fliers Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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Annette Gruters Department for Pediatric Endocrinology and Diabetes, Charité University Medicine, Berlin, Germany
University Hospital Heidelberg, Heidelberg, Germany

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Dominique Maiter Department of Endocrinology and Nutrition, UCL Cliniques Saint-Luc, Brussels, Belgium

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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 Department of Pediatric Endocrinology, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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Introduction Central hypothyroidism (CeH) is a disorder characterized by defective thyroid hormone production due to insufficient stimulation by thyrotropin (TSH) of an otherwise normal thyroid gland. This condition is the consequence of

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000491388
Volume/Issue:
Volume 7: Issue 5
Free access
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
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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in patients with mild central CH ( 24 ). Several patients with central hypothyroidism due to mutations in TBL1X were only diagnosed as teenagers or adults having (although not formally tested) normal mental and physical development suggesting

Article Type:
Review Article
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1530/ETJ-23-0041
Volume/Issue:
Volume 12: Issue 4
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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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

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
João Anselmo Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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Carolina M. Chaves Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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, the child was supplemented with L-T 4 to prevent neurodevelopmental constraints due to central hypothyroidism. Given the long-lasting effect of fetal hyperthyroidism in TSH suppression, we were unsure whether the abnormalities in the regulation of TSH

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000506423
Volume/Issue:
Volume 9: Issue 3
Free access
Christian Trummer Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria

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Hannes Reiher Department of Internal Medicine, Krankenhaus der Elisabethinen, Graz, Austria

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Verena Theiler-Schwetz Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria

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Marlene Pandis Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria

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Christian Gstettner Division of Nuclear Medicine, Department of Radiology, Medical University of Graz, Graz, Austria

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Peter Potzinger Department of Otorhinolaryngology, Krankenhaus der Elisabethinen, Graz, Austria

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Tilman Keck Department of Otorhinolaryngology, Krankenhaus der Elisabethinen, Graz, Austria

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Thomas R. Pieber Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria

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Sigurd Lax Department of Pathology, General Hospital Graz Sued-West, Graz, Austria
Institute of Pathology, Medical University of Graz, Graz, Austria
Institute for Clinical Pathology, Johannes Kepler University, Linz, Austria

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Johannes Haybaeck Department of Pathology, Medical Faculty, Otto-von-Guericke University Magdeburg, Magdeburg, Germany
Department of Neuropathology, Institute of Pathology, Medical University of Graz, Graz, Austria
Department of Pathology, Neuropathology and Molecular Pathology, Medical University of Innsbruck, Innsbruck, Austria

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Vinzenz Stepan Department of Internal Medicine, Krankenhaus der Elisabethinen, Graz, Austria

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Stefan Pilz Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria

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showed central hypothyroidism with decreased TSH (0.01 µU/mL, normal 0.27–4.20), fT4 (12.1 pmol/L, normal 13.0–23.0), and fT3 (3.09 pmol/L, normal 3.1–6.8). Consequently, the patient received 100 µg of levothyroxine daily; octreotide was not continued

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000505020
Volume/Issue:
Volume 9: Issue 2
Free access
Akshay Khatri Division of Infectious Diseases, Department of Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, Manhasset, New York, USA

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Esti Charlap Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, Great Neck, New York, USA

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Angela Kim Division of Infectious Diseases, Department of Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, Manhasset, New York, USA

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decreased hormone levels could be explained by the pathologic findings of follicular destruction. However, the low TSH level could be secondary to hypothalamus-pituitary dysfunction – this is reinforced by the findings of central hypothyroidism and central

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000511872
Volume/Issue:
Volume 9: Issue 6
Free access
Arjun Rajendran Department of Endocrinology, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Cochin, India

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Nisha Bhavani Department of Endocrinology, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Cochin, India

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Vasantha Nair Department of Endocrinology, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Cochin, India

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Praveen V. Pavithran Department of Endocrinology, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Cochin, India

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V. Usha Menon Department of Endocrinology, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Cochin, India

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Harish Kumar Department of Endocrinology, Amrita Institute of Medical Sciences, Amrita Vishwa Vidyapeetham, Cochin, India

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was treated according to the protocol. All except one patient in this series had primary hypothyroidism. Subject 6 had central hypothyroidism as part of hypopituitarism secondary to ex­cision of pituitary macroadenoma. He came with myxedema coma

Article Type:
Research Article
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1159/000507855
Volume/Issue:
Volume 10: Issue 1
Free access