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S R Ali
S R Ali
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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J Bryce
J Bryce
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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A L Priego-Zurita
A L Priego-Zurita
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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M Cherenko
M Cherenko
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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C Smythe
C Smythe
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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T M de Rooij
T M de Rooij
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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M Cools
M Cools
Department of Internal Medicine and Paediatrics, Ghent University, Belgium
Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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T Danne
T Danne
Diabetes Center AUF DER BULT, Hannover, Germany
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H Katugampola
H Katugampola
UCL GOS Institute of Child Health, London
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O M Dekkers
O M Dekkers
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands
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Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands
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O Hiort
O Hiort
Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany
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A Linglart
A Linglart
AP-HP, Université Paris Saclay, INSERM, Bicêtre Paris Saclay Hospital, le Kremlin Bicêtre, France
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I Netchine
I Netchine
Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France
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A Nordenstrom
A Nordenstrom
Pediatric Endocrinology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
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P Attila
P Attila
Clinical Genetics and Endocrinology Laboratory, Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary
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L Persani
L Persani
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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N Reisch
N Reisch
Endokrinologie, Medizinische Klinik Innenstadt und Poliklinik IV, Klinikum der Universität München, Munich, Germany
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A Smyth
A Smyth
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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Z Sumnik
Z Sumnik
Department of Pediatrics, Motol University Hospital and 2nd Faculty of Medicine, Charles University, Prague, Czech Republic
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D Taruscio
D Taruscio
National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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W E Visser
W E Visser
Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, the Netherlands
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A M Pereira
A M Pereira
Department of Endocrinology and Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands
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Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands
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N M Appelman-Dijkstra
N M Appelman-Dijkstra
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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S F Ahmed
S F Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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Introduction The field of clinical endocrinology covers a very wide range of rare conditions. However, clear information on the incidence and prevalence of these conditions is lacking. By pooling standardised information from several sources
E K White
E K White
Division of Endocrinology and Centre for Endocrine Tumors, Department of Medicine, Leiden University Medical Centre, Leiden, The Netherlands
Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands
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Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands
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I V Wagner
I V Wagner
Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, Amsterdam, The Netherlands
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C van Beuzekom
C van Beuzekom
Division of Endocrinology and Centre for Endocrine Tumors, Department of Medicine, Leiden University Medical Centre, Leiden, The Netherlands
Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands
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Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands
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V Iotova
V Iotova
Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany
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S F Ahmed
S F Ahmed
Office for Rare Conditions, University of Glasgow, Glasgow, UK
Department of Paediatrics, UMHAT ‘Sveta Marina’ Varna, Medical University of Varna, Varna, Bulgaria
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Department of Paediatrics, UMHAT ‘Sveta Marina’ Varna, Medical University of Varna, Varna, Bulgaria
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O Hiort
O Hiort
Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, Amsterdam, The Netherlands
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A M Pereira
A M Pereira
Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands
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to make it generally known among European patients and experts, can lead to a more regular use of CPMS and move closer to supplying expert specialized care for all patients with rare conditions in Europe in the (near) future. Though, during the future
M Cherenko
M Cherenko
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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N M Appelman-Dijkstra
N M Appelman-Dijkstra
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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A L Priego Zurita
A L Priego Zurita
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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N R Biermasz
N R Biermasz
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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O M Dekkers
O M Dekkers
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
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F A Klok
F A Klok
Department of Medicine, Division of Thrombosis and Haemostasis, Leiden University Medical Centre, Leiden, Netherlands
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N Reisch
N Reisch
Department of Medicine IV, LMU University Hospital, LMU Munich, Munich, Germany
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A Aulinas
A Aulinas
Department of Endocrinology, Fundacio de Gestio Sanitaria Hospital de la Santa Creu i Sant Pau, IR-SantPau and CIBERER Unit 747 (ISCIII), Barcelona, Spain
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B Biagetti
B Biagetti
Department of Endocrinology, Hospital Universitari Vall d’Hebron, Barcelona, Spain
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S Cannavo
S Cannavo
Endocrine Unit, University Hospital AOU Policlinico G. Martino, Messina, Italy
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L Canu
L Canu
University Hospital Florence Careggi, Florence, Italy
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M Detomas
M Detomas
Department of Internal Medicine, University Hospital Würzburg, Wuerzburg, Germany
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F Devuyst
F Devuyst
Department of Endocrinology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Brussels, Belgium
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H Falhammar
H Falhammar
Department of Endocrinology, Karolinska University Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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R A Feelders
R A Feelders
Department of Internal Medicine, Division of Endocrinology, Erasmus MC, Rotterdam, Netherlands
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F Ferrau
F Ferrau
Endocrine Unit, University Hospital AOU Policlinico G. Martino, Messina, Italy
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F Gatto
F Gatto
IRCCS Ospedale Policlinico San Martino, Genova, Genoa, Italy
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C Grasselli
C Grasselli
Cardiovascular Medicine Unit, AUSL-IRCCS, Reggio Emilia, Italy
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P van Houten
P van Houten
Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, Netherlands
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C Hoybye
C Hoybye
Department of Endocrinology, Karolinska University Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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A M Isidori
A M Isidori
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy
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A Kyrilli
A Kyrilli
Department of Endocrinology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Brussels, Belgium
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P Loli
P Loli
Division of Endocrinology, San Raffaele Vita-Salute University, IRCCS San Raffaele Hospital Milan, Italy
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D Maiter
D Maiter
Department of Endocrinology, Cliniques universitaires Saint-Luc – UCLouvain, Brussels, Belgium
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E Nowak
E Nowak
Department of Medicine IV, LMU University Hospital, LMU Munich, Munich, Germany
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R Pivonello
R Pivonello
Dipartimento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Diabetologia, Andrologia e Nutrizione, Università “Federico II” di Napoli, Naples, Italy
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O Ragnarsson
O Ragnarsson
Sahlgrenska Academy, Wallenberg Centre for Molecular and Translational Medicine, Institute of Medicine (O.R.), University of Gothenburg, Sweden
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R V Steenaard
R V Steenaard
Department of Internal Medicine, Máxima MC, Veldhoven, Netherlands
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N Unger
N Unger
University Hospital Essen, Department of Endocrinology, Diabetes and Metabolism, Essen, Germany
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A van de Ven
A van de Ven
Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, Netherlands
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S M Webb
S M Webb
Department of Endocrinology, Fundacio de Gestio Sanitaria Hospital de la Santa Creu i Sant Pau, IR-SantPau and CIBERER Unit 747 (ISCIII), Barcelona, Spain
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D Yeste
D Yeste
Pediatric Endocrinology Service, Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. CIBER Enfermedades Raras, Instituto Carlos III, Madrid, Spain
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S F Ahmed
S F Ahmed
Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
University of Glasgow, Office for Rare Conditions, Glasgow, UK
University of Glasgow, Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK
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University of Glasgow, Office for Rare Conditions, Glasgow, UK
University of Glasgow, Developmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK
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A M Pereira
A M Pereira
Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, Amsterdam, Noord-Holland, Netherlands
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opportunity for all patients, healthcare professionals, and researchers to participate and use high-quality, patient-centered registries for these rare conditions. The two platforms of the EuRRECa project encompass the Core registry, which collects a common
Amir H Zamanipoor Najafabadi
Amir H Zamanipoor Najafabadi
Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands
Department of Medicine, Division of Endocrinology and Centre for Endocrine Tumors, Leiden University Medical Centre, Leiden, The Netherlands
Department of Neurosurgery, University Neurosurgical Centre Holland (UNCH), Leiden University Medical Centre, Haaglanden Medical Centre and Haga Teaching Hospitals, Leiden and The Hague, The Netherlands
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Department of Medicine, Division of Endocrinology and Centre for Endocrine Tumors, Leiden University Medical Centre, Leiden, The Netherlands
Department of Neurosurgery, University Neurosurgical Centre Holland (UNCH), Leiden University Medical Centre, Haaglanden Medical Centre and Haga Teaching Hospitals, Leiden and The Hague, The Netherlands
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Merel van der Meulen
Merel van der Meulen
Department of Medicine, Division of Endocrinology and Centre for Endocrine Tumors, Leiden University Medical Centre, Leiden, The Netherlands
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Ana Luisa Priego Zurita
Ana Luisa Priego Zurita
Department of Medicine, Division of Endocrinology and Centre for Endocrine Tumors, Leiden University Medical Centre, Leiden, The Netherlands
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S Faisal Ahmed
S Faisal Ahmed
Chair of Work Package of E-Health & ICT of Endo-ERN, Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow and Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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Wouter R van Furth
Wouter R van Furth
Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands
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Evangelia Charmandari
Evangelia Charmandari
Pediatric Chair Main Thematic Group 6 Pituitary of Endo-ERN, Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece
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Olaf Hiort
Olaf Hiort
Pediatric Chair and Deputy Coordinator of Endo-ERN, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany
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Alberto M Pereira
Alberto M Pereira
Adult Chair and Coordinator of Endo-ERN, Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, The Netherlands
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Mehul Dattani
Mehul Dattani
London Centre for Pediatric Endocrinology and Diabetes at Great Ormond Street Children's Hospital and University College London Hospitals, London, UK
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Diana Vitali
Diana Vitali
SOD ITALIA (Italian Organization for Septo Optic Dysplasia and other Neuroendocrine Disorders), European Patient Advocacy Group, Rome, Italy
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Johan P de Graaf
Johan P de Graaf
Dutch Pituitary Foundation, European Patient Advocacy Group, Nijkerk, The Netherlands
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Nienke R Biermasz
Nienke R Biermasz
Adult Chair Main Thematic Group 6 Pituitary of Endo-ERN, Department of Medicine, Division of Endocrinology and Centre for Endocrine Tumors, Leiden University Medical Centre, Leiden, The Netherlands
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these rare conditions ( 1 ). Eight main thematic disease groups (MTGs) define the European landscape of rare endocrine conditions. MTG6, ‘Pituitary’, includes three subthemes: pituitary adenoma, congenital hypopituitarism, and acquired hypopituitarism
Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Martine Cools
Martine Cools
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Stamatina Ioakim
Stamatina Ioakim
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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S Faisal Ahmed
S Faisal Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
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Silvia Andonova
Silvia Andonova
National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria
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Magdalena Avbelj-Stefanija
Magdalena Avbelj-Stefanija
Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
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Federico Baronio
Federico Baronio
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
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Jerome Bouligand
Jerome Bouligand
Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France
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Hennie T Bruggenwirth
Hennie T Bruggenwirth
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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Justin H Davies
Justin H Davies
Faculty of Medicine, University of Southampton, Southampton, United Kingdom
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Elfride De Baere
Elfride De Baere
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Iveta Dzivite-Krisane
Iveta Dzivite-Krisane
Children’s University Hospital, Riga, Latvia
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Paula Fernandez-Alvarez
Paula Fernandez-Alvarez
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
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Alexander Gheldof
Alexander Gheldof
Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium
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Claudia Giavoli
Claudia Giavoli
Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Claus H Gravholt
Claus H Gravholt
Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark
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Olaf Hiort
Olaf Hiort
University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany
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Paul-Martin Holterhus
Paul-Martin Holterhus
University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany
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Anders Juul
Anders Juul
Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
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Csilla Krausz
Csilla Krausz
Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
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Kristina Lagerstedt-Robinson
Kristina Lagerstedt-Robinson
Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden
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Ruth McGowan
Ruth McGowan
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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Uta Neumann
Uta Neumann
Charité Medicine University, Berlin, Germany
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Antonio Novelli
Antonio Novelli
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy
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Xavier Peyrassol
Xavier Peyrassol
Universitè Libre di Bruxelles, Brussels, Belgium
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Leonidas A Phylactou
Leonidas A Phylactou
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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Julia Rohayem
Julia Rohayem
University Hospital Münster, Munster, Germany
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Philippe Touraine
Philippe Touraine
Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France
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Dineke Westra
Dineke Westra
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
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Valeria Vezzoli
Valeria Vezzoli
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Raffaella Rossetti
Raffaella Rossetti
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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7 (MTG7) dedicated to rare conditions of SDM within the European Reference Network on rare endocrine conditions (Endo-ERN; www.endo-ern.eu ) ( 3 ). Methods An international survey was circulated among the HCPs of MTG7 within Endo-ERN in
Hanna F Nowotny
Hanna F Nowotny
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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Jillian Bryce
Jillian Bryce
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Salma R Ali
Salma R Ali
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Roberta Giordano
Roberta Giordano
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy
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Division of Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy
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Federico Baronio
Federico Baronio
Pediatric Unit, Department Hospital of Woman and Child, Endo-ERN Centre IT11, IRCSS AOU S.Orsola-Malpighi University Hospital, Bologna, Italy
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Irina Chifu
Irina Chifu
Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital of Wuerzburg, University of Wuerzburg, Wuerzburg, Germany
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Lea Tschaidse
Lea Tschaidse
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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Martine Cools
Martine Cools
Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium
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Erica LT van den Akker
Erica LT van den Akker
Department of Pediatrics, Division of Pediatric Endocrinology, Erasmus MC - Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands
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Henrik Falhammar
Henrik Falhammar
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden
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Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden
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Natasha M Appelman-Dijkstra
Natasha M Appelman-Dijkstra
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
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Luca Persani
Luca Persani
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan Italy
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Guglielmo Beccuti
Guglielmo Beccuti
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
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Ian L Ross
Ian L Ross
Division of Endocrinology, Department of Medicine, University of Cape Town, Cape Town, South Africa
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Simona Grozinsky-Glasberg
Simona Grozinsky-Glasberg
Neuroendocrine Tumor Unit, ENETS Center of Excellence, Department of Endocrinology and Metabolism, Hadassah Medical Organisation and Faculty of Medicine, the Hebrew University, Jerusalem, Israel
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Alberto M Pereira
Alberto M Pereira
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
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Eystein S Husebye
Eystein S Husebye
Department of Clinical Science and KG Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medicine, Karolinska Institutet, Stockholm, Sweden
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Department of Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medicine, Karolinska Institutet, Stockholm, Sweden
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Stefanie Hahner
Stefanie Hahner
Division of Endocrinology and Diabetology, Department of Internal Medicine I, University Hospital of Wuerzburg, University of Wuerzburg, Wuerzburg, Germany
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S Faisal Ahmed
S Faisal Ahmed
Office for Rare Conditions, University of Glasgow, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom
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Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom
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Nicole Reisch
Nicole Reisch
Medizinische Klinik IV, Department of Endocrinology, Klinikum der Universität München, Munich, Germany
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Background
Information on clinical outcomes of coronavirus disease 19 (COVID-19) infection in patients with adrenal disorders is scarce.
Methods
A collaboration between the European Society of Endocrinology (ESE) Rare Disease Committee and European Reference Network on Rare Endocrine Conditions via the European Registries for Rare Endocrine Conditions allowed the collection of data on 64 cases (57 adrenal insufficiency (AI), 7 Cushing’s syndrome) that had been reported by 12 centres in 8 European countries between January 2020 and December 2021.
Results
Of all 64 patients, 23 were males and 41 females (13 of those children) with a median age of 37 and 51 years. In 45/57 (95%) AI cases, COVID-19 infection was confirmed by testing. Primary insufficiency was present in 45/57 patients; 19 were affected by Addison’s disease, 19 by congenital adrenal hyperplasia and 7 by primary AI (PAI) due to other causes. The most relevant comorbidities were hypertension (12%), obesity (n = 14%) and diabetes mellitus (9%). An increase by a median of 2.0 (IQR 1.4) times the daily replacement dose was reported in 42 (74%) patients. Two patients were administered i.m. injection of 100 mg hydrocortisone, and 11/64 were admitted to the hospital. Two patients had to be transferred to the intensive care unit, one with a fatal outcome. Four patients reported persistent SARS-CoV-2 infection, all others complete remission.
Conclusion
This European multicentre questionnaire is the first to collect data on the outcome of COVID-19 infection in patients with adrenal gland disorders. It suggests good clinical outcomes in case of duly dose adjustments and emphasizes the importance of patient education on sick day rules.
S C Clement
S C Clement
Department of Pediatrics, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
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Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
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W E Visser
W E Visser
Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
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C A Lebbink
C A Lebbink
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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D Albano
D Albano
Department of Nuclear Medicine, University of Brescia and Spedali Civili of Brescia, Brescia, Italy
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H L Claahsen-van der Grinten
H L Claahsen-van der Grinten
Department of Pediatrics, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands
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A Czarniecka
A Czarniecka
The Oncologic and Reconstructive Surgery Clinic, M. Sklodowska-Curie National Research Institute of Oncology Gliwice Branch, Gliwice, Poland
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R P Dias
R P Dias
Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham Women’s, and Children’s NHS Foundation Trust, Birmingham, UK
Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
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Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
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M P Dierselhuis
M P Dierselhuis
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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I Dzivite-Krisane
I Dzivite-Krisane
Department of Pediatric Endocrinology, Children's Clinical University Hospital, Riga, Latvia
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R Elisei
R Elisei
Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
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A Garcia-Burillo
A Garcia-Burillo
Nuclear Medicine Department, Vall d'Hebron University Hospital, Barcelona, Spain
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L Izatt
L Izatt
Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK
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C Kanaka-Gantenbein
C Kanaka-Gantenbein
Division of Endocrinology, Diabetes, and Metabolism, First Department of Pediatrics National and Kapodistrian University of Athens Medical School, Aghia Sophia Children's Hospital, Athens, Greece
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H Krude
H Krude
Institute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin, Berlin, Germany
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L Lamartina
L Lamartina
Department of Endocrine Oncology, Gustave Roussy, Villejuif, France
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K Lorenz
K Lorenz
Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany
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M Luster
M Luster
Department of Nuclear Medicine, University Hospital Marburg, Marburg, Germany
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R Navardauskaitė
R Navardauskaitė
Department of Endocrinology, Lithuanian University of Health Sciences, Kaunas, Lithuania
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M Negre Busó
M Negre Busó
Nuclear Medicine Service - Institut de diagnòstic per la Imatge, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain
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K Newbold
K Newbold
Thyroid Therapy Unit, The Royal Marsden NHS Foundation Trust Hospital, London, UK
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R P Peeters
R P Peeters
Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
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G Pellegriti
G Pellegriti
Endocrinology, Endocrinology Division, Garibaldi-Nesima Medical Center, Catania, Italy
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A Piccardo
A Piccardo
Department of Nuclear Medicine, EO Ospedali Galliera, Genoa, Italy
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A L Priego
A L Priego
Department of Medicine, Division of Endocrinology, Leiden, University medical Center, Leiden, The Netherlands
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A Redlich
A Redlich
Pediatric Oncology Department, Otto von Guericke University Children's Hospital, Magdeburg, Germany
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L de Sanctis
L de Sanctis
Regina Margherita Children Hospital - Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy
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M Sobrinho-Simões
M 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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A S P van Trotsenburg
A S P van Trotsenburg
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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F A Verburg
F A Verburg
Department of Radiology & Nuclear Medicine, Erasmus MC Rotterdam, Rotterdam, The Netherlands
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M Vriens
M Vriens
Department of Endocrine Surgery, University Medical Center Utrecht, Utrecht, The Netherlands
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T P Links
T P Links
Department of Endocrinology, University Medical Center Groningen, Groningen, The Netherlands
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S F Ahmed
S F Ahmed
Endocrinology, Endocrinology Division, Garibaldi-Nesima Medical Center, Catania, Italy
Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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H M van Santen
H M van Santen
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Background
Although differentiated thyroid carcinoma (DTC) is the most frequent endocrine pediatric cancer, it is rare in childhood and adolescence. While tumor persistence and recurrence are not uncommon, mortality remains extremely low. Complications of treatment are however reported in up to 48% of the survivors. Due to the rarity of the disease, current treatment guidelines are predominantly based on the results of small observational retrospective studies and extrapolations from results in adult patients. In order to develop more personalized treatment and follow-up strategies (aiming to reduce complication rates), there is an unmet need for uniform international prospective data collection and clinical trials.
Methods and analysis
The European pediatric thyroid carcinoma registry aims to collect clinical data for all patients ≤18 years of age with a confirmed diagnosis of DTC who have been diagnosed, assessed, or treated at a participating site. This registry will be a component of the wider European Registries for Rare Endocrine Conditions project which has close links to Endo-ERN, the European Reference Network for Rare Endocrine Conditions. A multidisciplinary expert working group was formed to develop a minimal dataset comprising information regarding demographic data, diagnosis, treatment, and outcome. We constructed an umbrella-type registry, with a detailed basic dataset. In the future, this may provide the opportunity for research teams to integrate clinical research questions.
Ethics and dissemination
Written informed consent will be obtained from all participants and/or their parents/guardians. Summaries and descriptive analyses of the registry will be disseminated via conference presentations and peer-reviewed publications.
Mette H Viuff
Mette H Viuff
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
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Claus H Gravholt
Claus H Gravholt
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
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Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
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In this commentary, we discuss the state of affairs concerning the clinical care of females with Turner syndrome (TS) in Germany. TS is a rare disease and new international guidelines describe an appropriate setup for optimal clinical care. Several countries have implemented a program with centralized adult Turner syndrome clinics, which are now found in France, Denmark, the Netherlands, Sweden, parts of England and possibly other countries, but hitherto not in Germany. Such an approach should ensure the availability of high quality multi-disciplinary care for all women with TS to be treated and to detect all the conditions that have been associated with TS, which typically appear at odd times during the lifetime of a female with TS. Care should be offered at no added cost for the patient, and treatment with relevant drugs should be available at reasonable cost for the individual patient. Currently, it is quite problematic that many female sex hormone preparations are not available at low cost in a number of countries. Additional problems include supply chain issue which lead to patients not being able to buy their usual drug for a certain period of time. We think it is timely that countries improve the care for individuals with rare conditions, such as TS.
Violeta Iotova
Violeta Iotova
Endo-ERN Work Package ‘Education & Training’ Paediatric Chair, Department of Pediatrics, Medical University of Varna, Varna, Bulgaria
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Jerome Bertherat
Jerome Bertherat
Endo-ERN Work Package ‘Research & Science’ Adult Chair, Department of Endocrinology and National Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, Paris, France
Université de Paris, Institut Cochin, Inserm U1016, CNRS UMR8104, Paris, France
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Université de Paris, Institut Cochin, Inserm U1016, CNRS UMR8104, Paris, France
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George Mastorakos
George Mastorakos
Endo-ERN Work Package ‘Diagnostics & Laboratory Analysis’ Adult Chair, Faculty of Medicine, National and Kapodistrian University of Athens, Athens, Greece
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Olaf Hiort
Olaf Hiort
Paediatric Chair and Deputy Coordinator of Endo-ERN, Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany
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Alberto M Pereira
Alberto M Pereira
Adult Chair and Coordinator of Endo-ERN, Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands
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types of rare diseases. HCPs with national endorsement for expertise in specific rare conditions were candidates to join a new initiative for virtual European Union (EU) networks of reference centers, the European Reference Networks (ERNs). Following a
Niek F Dirks
Niek F Dirks
Atalmedial Diagnostics Centre, Spaarne Gasthuis, Haarlem, The Netherlands
Department of Clinical Chemistry, Hematology and Immunology, Noordwest Ziekenhuis, Alkmaar, The Netherlands
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Department of Clinical Chemistry, Hematology and Immunology, Noordwest Ziekenhuis, Alkmaar, The Netherlands
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Etienne Cavalier
Etienne Cavalier
Department of Clinical Chemistry, University of Liège, CHU de Liège, Liège, Belgium
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Annemieke C Heijboer
Annemieke C Heijboer
Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Clinical Chemistry, Endocrine Laboratory, Boelelaan, Amsterdam, The Netherlands
Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam, The Netherlands
Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Endocrine Laboratory, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
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Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam, The Netherlands
Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Endocrine Laboratory, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
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D (25(OH)D) metabolite, other vitamin D metabolites may offer vital information in diagnosing the more rare conditions. When measuring any of the vitamin D metabolites, it is essential to know what the actual measurand of the assay is, as it is not
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