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R. Paschke Department of Endocrinology and Nephrology, Leipzig University, Leipzig, Germany

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M. Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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B. Vaidya Department of Endocrinology, Royal Devon and Exeter Hospital, Peninsula Medical School, Exeter, UK

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L. Persani Department of Clinical Sciences, and Community Health, University of Milan, and Istituto Auxologico Italiano, Milan, Italy

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B. Rapoport Autoimmune Disease Unit, Cedars-Sinai Research Institute and School of Medicine, University of California, Los Angeles, Calif., USA

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J. Leclere Centre Hospitalier Universitaire de Nancy, Nancy, France

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Introduction Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) and persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH) are rare forms of hyperthyroidism caused by germline mutations in the thyroid

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000342982
Volume/Issue:
Volume 1: Issue 3
Free access
R. Elisei Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy

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M. Alevizaki Endocrine Unit, Department of Medical Therapeutics, Athens University School of Medicine, Athens, Greece

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B. Conte-Devolx Department of Endocrinology, La Timone Hospital, Aix Marseille University, Marseille, France

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K. Frank-Raue Endocrine Practice, Molecular Laboratory, Heidelberg, Germany

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V. Leite Department of Endocrinology, Portuguese Institute of Oncology and CEDOC, Faculty of Medical Sciences, Lisbon, Portugal

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G.R. Williams Molecular Endocrinology Group, Department of Medicine, Hammersmith Hospital, Imperial College London, London, UK

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determine possible development of PHEO or PHPT, and the need for early counseling and genetic screening of relatives. Recommendation 5 (a) All patients with either apparently sporadic or familial MTC should be screened for germline RET mutations (QOE

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000346174
Volume/Issue:
Volume 1: Issue 4
Free access
Thomas Karrasch Department of Internal Medicine III, Giessen University Hospital, Giessen

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Saskia M. Herbst Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany

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Ute Hehr Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany

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Andreas Schmid Department of Internal Medicine III, Giessen University Hospital, Giessen

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Andreas Schäffler Department of Internal Medicine III, Giessen University Hospital, Giessen

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What Is Known about This Topic? • The pathogenic effect of the p.Val804Met missense mutation of the RET proto-oncogene is well described in familial medullary thyroid cancer. In contrast, the clinical significance of the novel missense

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000443730
Volume/Issue:
Volume 5: Issue 1
Free access
Patrice Rodien Reference Centre for Rare Diseases of Hormonal Sensitivity, CHU d’Angers, Angers, France

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disease or the condition on which the development group will focus largely determines the way some of the key points can be achieved. The scope, here, is the familial and sporadic non- autoimmune hyperthyroidism caused by TSH receptor germline mutations

Article Type:
Editorial
DOI:
https://doi.org/10.1159/000342993
Volume/Issue:
Volume 1: Issue 3
Free access
Grace Segall Eli Lilly and Company, Indianapolis, IN, USA

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Ravinder Singh Eli Lilly and Company, Indianapolis, IN, USA

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Min-Hua Jen Eli Lilly and Company, Indianapolis, IN, USA

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Isaac Sanderson Adelphi Real World, Bollington, UK

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Alex Rider Adelphi Real World, Bollington, UK

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Katie Lewis Adelphi Real World, Bollington, UK

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Urpo Kiiskinen Eli Lilly and Company, Indianapolis, IN, USA

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-cancer-related deaths ( 6 ). Approximately 75% of MTC cases are sporadic, and 25% are hereditary ( 7 , 8 ). The hereditary form of MTC can occur either with other endocrine neoplasms (multiple endocrine neoplasia (MEN) types 2A and 2B) or alone (familial MTC) ( 7 , 8

Article Type:
Research Article
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-23-0172
Volume/Issue:
Volume 13: Issue 1
Open access
Dorothée Bouron-Dal Soglio Department of Pathology, CHU Sainte-Justine, Montreal, Québec, Canada

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Leanne de Kock The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada

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Richard Gauci Nuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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Nelly Sabbaghian The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada

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Elizabeth Thomas Nuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia
Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia

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Helen C. Atkinson Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia

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Nicholas Pachter Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia
King Edward Memorial Hospital, Perth, Washington, Australia

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Simon Ryan Department of General Surgery, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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John P. Walsh Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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M. Priyanthi Kumarasinghe PathWest, QEII Medical Centre, Perth, Washington, Australia

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Karen Carpenter Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Washington, Australia

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Ayça Aydoğan Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey

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Colin J.R. Stewart King Edward Memorial Hospital, Perth, Washington, Australia

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William D. Foulkes The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada
Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada

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Catherine S. Choong Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia
Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia

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What Is Known about This Topic? Clinicians should be suspicious of an underlying genetic aetiology when a child or adolescent presents with nodular thyroid disease and a history of familial malignancy or syndrome-related diseases. Targeted

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000481620
Volume/Issue:
Volume 7: Issue 1
Free access
Chantal A Lebbink Wilhelmina Children’s Hospital and Princess Máxima Center, Utrecht, The Netherlands

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Thera P Links Department of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

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Agnieszka Czarniecka The Oncologic and Reconstructive Surgery Clinic, M. Sklodowska-Curie National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Renuka P Dias Department of Paediatric Endocrinology and Diabetes, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom

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Rossella Elisei Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Louise Izatt Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, United Kingdom

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Heiko Krude Institute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin, Berlin, Germany

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Kerstin Lorenz Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany

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Markus Luster Department of Nuclear Medicine, University Hospital Marburg, Marburg, Germany

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Kate Newbold Thyroid Therapy Unit, The Royal Marsden NHS Foundation Trust, London, United Kingdom

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Arnoldo Piccardo Department of Nuclear Medicine, EO Ospedali Galliera, Genoa, Italy

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Manuel Sobrinho-Simões University Hospital of São João, Medical Faculty and Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal

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Toru Takano Thyroid Center, Rinku General Medical Center, Osaka, Japan

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A S Paul van Trotsenburg Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands

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Frederik A Verburg Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands

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Hanneke M van Santen Wilhelmina Children’s Hospital and Princess Máxima Center, Utrecht, The Netherlands

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for developing DTC We recommend that patients with a high risk of developing DTC (history of radiation exposure to the thyroid or a thyroid cancer predisposition syndromes) should be counseled for surveillance (4S). We suggest that initiation of

Article Type:
Other
Collections:
Pediatric thyroid diseases
DOI:
https://doi.org/10.1530/ETJ-22-0146
Volume/Issue:
Volume 11: Issue 6
Open access
Peter N. Taylor Thyroid Research Group, Institute of Experimental and Molecular Medicine, School of Medicine, Cardiff University, Cardiff
London School of Hygiene and Tropical Medicine, London

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Bijay Vaidya Department of Endocrinology, Royal Devon and Exeter Hospital and Peninsula Medical School, Exeter, UK

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ago as 1972 [ 22 ]. Whilst aplasia cutis can be familial or occur spontaneously, it is rare in babies not exposed to teratogens, with a birth prevalence of 0.03% [ 23 ]. In keeping with this, there was circumstantial evidence of an association between

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000342920
Volume/Issue:
Volume 1: Issue 3
Free access
Christiaan F Mooij Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands

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Timothy D Cheetham Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne, UK
Department of Pediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK

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Frederik A Verburg Department of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, the Netherlands

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Anja Eckstein Department of Ophthalmology, University Duisburg Essen, Essen, Germany

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Simon H Pearce Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne, UK
Endocrine Unit, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK

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Juliane Léger Department of Pediatric Endocrinology and Diabetes, Reference Center for Rare Endocrine Growth and Development Diseases, Endo-ERN HCP, Assistance Publique-Hôpitaux de Paris, Robert Debré University Hospital, University of Paris, NeuroDiderot Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France

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A S Paul van Trotsenburg Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands

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usually transient. Serious side-effects that warrant stopping ATD are rare (2–3 per 100,000) (1,ØØØO). • Patients and families should be counseled about ATD side effects and the criteria for stopping the drug and seeking health professional guidance (1

Article Type:
Other
Collections:
Pediatric thyroid diseases
DOI:
https://doi.org/10.1530/ETJ-21-0073
Volume/Issue:
Volume 11: Issue 1
Open access
Giulia Brigante Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria, Modena, Italy

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Clara Lazzaretti Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Elia Paradiso Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Federico Nuzzo Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Martina Sitti Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Frank Tüttelmann Institute of Reproductive Genetics, University of Münster, Münster, Germany

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Gabriele Moretti Department of Biology, University of Pisa, Pisa, Italy

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Roberto Silvestri Department of Biology, University of Pisa, Pisa, Italy

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Federica Gemignani Department of Biology, University of Pisa, Pisa, Italy

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Asta Försti Hopp Children’s Cancer Center (KiTZ), Heidelberg, Germany
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany

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Kari Hemminki Biomedical Center, Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Pilsen, Czech Republic
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany

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Rossella Elisei Department of Endocrinology, University Hospital, Pisa, Italy

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Cristina Romei Department of Endocrinology, University Hospital, Pisa, Italy

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Eric Adriano Zizzi PolitoBIO Med Lab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino, Italy

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Marco Agostino Deriu PolitoBIO Med Lab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino, Italy

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Manuela Simoni Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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Stefano Landi Department of Biology, University of Pisa, Pisa, Italy

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Livio Casarini Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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five Nordic countries . Journal of Medical Genetics 2013 50 373 – 382 . ( https://doi.org/10.1136/jmedgenet-2012-101412 ) 6 Hemminki K Sundquist J Lorenzo Bermejo J . Familial risks for cancer as the basis for evidence-based clinical referral

Article Type:
Research Article
Collections:
Genetics and omics in thyroidology
DOI:
https://doi.org/10.1530/ETJ-22-0058
Volume/Issue:
Volume 11: Issue 5
Open access