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Ayse Nurcan Cebeci Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

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Vera Schempp Paediatric Endocrinology, University Hospital, Bonn, Germany

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Katharina Förtsch Paediatric Endocrinology, University Hospital, Düsseldorf, Germany

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Bettina Gohlke Paediatric Endocrinology, University Hospital, Bonn, Germany

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Michaela Marx Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

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Helmuth-Guenther Dörr Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

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Joachim Woelfle Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

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cohort suggest that patients with DS and GD present at an earlier age have similar clinical features as GD patients and respond to medical treatment. We suggest documenting all patients with DS and GD in a registry to extend the knowledge of this rare

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-24-0032
Volume/Issue:
Volume 13: Issue 6
Open access
Irfan Vardarli Department of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Recklinghausen, Germany

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Manuel Weber Department of Nuclear Medicine, University Hospital Essen, Essen, Germany

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Frank Weidemann Department of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Recklinghausen, Germany

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Dagmar Führer Department of Endocrinology, Diabetes and Metabolism, Clinical Chemistry – Division of Laboratory Research; Endocrine Tumor Center at WTZ/Comprehensive Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Ken Herrmann Department of Nuclear Medicine, University Hospital Essen, Essen, Germany

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Rainer Görges Department of Nuclear Medicine, University Hospital Essen, Essen, Germany

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diagnostic accuracy can be affected even when a small number of patients with very rare diseases, like the MTC, is missed. Additionally, this may lead to a high risk of bias with regard to flow and timing in the assessment of methodological quality. (b

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0030
Volume/Issue:
Volume 10: Issue 3
Open access
Stephanie Burger-Stritt Endocrinology and Diabetes Unit, Department of Medicine I, University Hospital Wuerzburg, Wuerzburg, Germany

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Linda Bachmann Endocrinology and Diabetes Unit, Department of Medicine I, University Hospital Wuerzburg, Wuerzburg, Germany

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Max Kurlbaum Endocrinology and Diabetes Unit, Department of Medicine I, University Hospital Wuerzburg, Wuerzburg, Germany

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Stefanie Hahner Endocrinology and Diabetes Unit, Department of Medicine I, University Hospital Wuerzburg, Wuerzburg, Germany

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). As many health professionals are not familiar with this rare disease, intravenous GC replacement may be delayed ( 15 , 16 , 17 ). To enable patients to deal with emergency situations more independently, patients and relatives are educated in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0024
Volume/Issue:
Volume 8: Issue 4
Open access
Barbora Pekova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Sarka Dvorakova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Vlasta Sykorova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Gabriela Vacinova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Eliska Vaclavikova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Jitka Moravcova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Rami Katra Department of Ear, Nose and Throat, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic

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Petr Vlcek Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic

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Pavla Sykorova Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic

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Daniela Kodetova Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic

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Josef Vcelak Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Bela Bendlova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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malignancy is higher in pediatric nodules compared with adults, 26 vs 7–15% ( 2 , 4 ). Pediatric thyroid cancer is a rare disease occurring mostly in females than in males ( 1 ). The most common type is papillary thyroid cancer (PTC), which represents 90

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0069
Volume/Issue:
Volume 8: Issue 6
Open access
Juliane Léger Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service d’Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes de la Croissance et du développement, Paris, France
Université Paris Diderot, Sorbonne Paris Cité, Paris, France
Institut National de la Santé et de la Recherche Médicale (INSERM), Unité 1141, DHU PROTECT, Paris, France

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Anne Fjellestad-Paulsen Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service d’Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes de la Croissance et du développement, Paris, France

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Anne Bargiacchi Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service de Psychiatrie de l’Enfant et de l’Adolescent, Centre de Référence des Maladies Endocriniennes de la Croissance et du développement, Paris, France

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Catherine Doyen Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service de Psychiatrie de l’Enfant et de l’Adolescent, Centre de Référence des Maladies Endocriniennes de la Croissance et du développement, Paris, France

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Emmanuel Ecosse Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service d’Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes de la Croissance et du développement, Paris, France

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Jean-Claude Carel Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service d’Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes de la Croissance et du développement, Paris, France
Université Paris Diderot, Sorbonne Paris Cité, Paris, France
Institut National de la Santé et de la Recherche Médicale (INSERM), Unité 1141, DHU PROTECT, Paris, France

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Marie-France Le Heuzey Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service de Psychiatrie de l’Enfant et de l’Adolescent, Centre de Référence des Maladies Endocriniennes de la Croissance et du développement, Paris, France

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research reported. Funding This study was supported in part by the French Ministry of Health (Rare Disease Plan). Acknowledgements The authors thank Didier Chevenne for the serum GH and IGF-I determinations. References 1 Rosen DS

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0200
Volume/Issue:
Volume 6: Issue 8
Open access
Julie M Silverstein Division of Endocrinology, Metabolism and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8127, St Louis, Missouri 63110, USA

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acromegaly – update . Endocrine Practice 2011 17 ( Suppl 4 ) 1 – 44 . ( doi:10.4158/EP.17.S4.1 ). 2 Chanson P Salenave S . Acromegaly . Orphanet Journal of Rare Diseases 2008 3 17 . ( doi:10.1186/1750-1172-3-17 ). 3 Daly AF Petrossians

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-15-0064
Volume/Issue:
Volume 4: Issue 4
Open access
Yardena Tenenbaum-Rakover Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Haifa, Israel

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Osnat Admoni Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Ghadir Elias-Assad Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Haifa, Israel

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Shira London Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Marie Noufi-Barhoum Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel

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Hanna Ludar Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Tal Almagor Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Yoav Zehavi Pediatric Department, B, Ha’Emek Medical Center, Afula, Israel

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Charles Sultan Pediatric Endocrinology and Gynecology Unit, CHU de Montpellier, Hôpital Arnaud de Villeneuve et Université Montpellier, Montpellier, France

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Rita Bertalan Institute Pasteur, Rue Dr Roux, Paris, France

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Anu Bashamboo Institute Pasteur, Rue Dr Roux, Paris, France

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Kenneth McElreavey Institute Pasteur, Rue Dr Roux, Paris, France

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Callewaert B Van Laecke E Hoebeke P De Baere E , Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development . Orphanet Journal of Rare Diseases 2014 9 209

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0019
Volume/Issue:
Volume 10: Issue 6
Open access
Marta Araujo-Castro Neuroendocrinology Unit, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Instituto de Investigación Biomédica Ramón y Cajal, Madrid, Spain

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Héctor Pian Endocrinology Unit, Department of Pathology, Hospital Universitario Ramón y Cajal, Madrid, Spain

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Ignacio Ruz-Caracuel Endocrinology Unit, Department of Pathology, Hospital Universitario Ramón y Cajal, Madrid, Spain

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Alberto Acitores Cancela Neuroendocrinology Unit, Department of Neurosurgery, Hospital Universitario Ramón y Cajal, Madrid, Spain

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Eider Pascual-Corrales Neuroendocrinology Unit, Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Instituto de Investigación Biomédica Ramón y Cajal, Madrid, Spain

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Víctor Rodríguez Berrocal Neuroendocrinology Unit, Department of Neurosurgery, Hospital Universitario Ramón y Cajal, Madrid, Spain
Endoscopic Skull Base Unit, Department of Neurosurgery, Hospital Universitario HM Puerta del Sur, Madrid, Spain

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Introduction Acromegaly is a rare disease characterized by the overproduction of growth hormone (GH), which is commonly secreted by a pituitary adenoma (PA). Because of cardiovascular, respiratory, and metabolic comorbidities, patients with

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0414
Volume/Issue:
Volume 10: Issue 1
Open access
Raluca Maria Furnica Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Muhammad Muddaththir Dusoruth Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Alexandre Persu Department of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Damien Gruson Department of Biology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Michel Mourad Endocrine Surgery, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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Dominique Maiter Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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. ( https://doi.org/10.3390/cancers11101505 ) 4 Santos Jenn RU Brofferio A Viana B Pacak K Catecholamine-induced cardiomyopathy in pheochromocytoma: how to manage a rare complication in a rare disease? Hormone and Metabolic Research 2019 51

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0537
Volume/Issue:
Volume 10: Issue 1
Open access
Louise Vølund Larsen Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark

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Delphine Mirebeau-Prunier Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, Université d’Angers, UMR CNRS 6015, INSERM U1083, MITOVASC, Angers, France

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Tsuneo Imai Department of Breast & Endocrine Surgery, National Hospital Organization, Higashinagoya National Hospital

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Cristina Alvarez-Escola Endocrinology and Nutrition Department, University Hospital ‘La Paz’, Madrid, Spain

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Kornelia Hasse-Lazar Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland

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Simona Censi Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Luciana A Castroneves Department of Endocrinology, Endocrine Oncology Unit, Instituto do Cancer do Estado de São Paulo, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil

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Akihiro Sakurai Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan

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Minoru Kihara Department of Surgery, Kuma Hospital, Kobe, Hyogo, Japan

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Kiyomi Horiuchi Department of Breast and Endocrine Surgery, Tokyo Women’s Medical University, Tokyo, Japan

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Véronique Dorine Barbu AP-HP, Sorbonne Université, Laboratoire Commun de Biologie et Génétique Moléculaires, Hôpital St Antoine & INSERM CRSA, Paris, France
Réseau TenGen, Marseille, France

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Francoise Borson-Chazot Réseau TenGen, Marseille, France
Fédération d’Endocrinologie, Hospices Civils de Lyon, Université Lyon 1, France

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Anne-Paule Gimenez-Roqueplo Réseau TenGen, Marseille, France
Service de Génétique, AP-HP, Hôpital européen Georges Pompidou, Paris, France
Université de Paris, PARCC, INSERM, Paris, France

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Pascal Pigny Réseau TenGen, Marseille, France
Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, Lille, France

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Stephane Pinson Réseau TenGen, Marseille, France
Laboratoire de Génétique Moléculaire, CHU Lyon, Lyon, France

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Nelson Wohllk Endocrine Section, Hospital del Salvador, Santiago de Chile, Department of Medicine, University of Chile, Santiago, Chile

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Charis Eng Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA

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Berna Imge Aydogan Department of Endocrinology And Metabolic Diseases, Ankara University School of Medicine, Ankara, Turkey

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Dhananjaya Saranath Department of Research Studies & Additional Projects, Cancer Patients Aid Association, Dr. Vithaldas Parmar Research & Medical Centre, Worli, Mumbai, India

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Sarka Dvorakova Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic

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Frederic Castinetti Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France
Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital de la Conception, Centre de Référence des Maladies Rares de l’hypophyse HYPO, Marseille, France

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Attila Patocs HAS-SE Momentum Hereditary Endocrine Tumors Research Group, Semmelweis University, Budapest, Hungary

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Damijan Bergant Department of Surgical Oncology, Institute of Oncology, Ljubljana, Slovenia

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

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Mariola Peczkowska Department of Hypertension, Institute of Cardiology, Warsaw, Poland

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Ana O Hoff Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands

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Caterina Mian Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Trisha Dwight Cancer Genetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, New South Wales, Australia

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Barbara Jarzab Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Gliwice, Poland

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Hartmut P H Neumann Section for Preventive Medicine, Medical Center-University of Freiburg, Faculty of Medicine, Albert Ludwigs-University of Freiburg, Freiburg, Germany

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Mercedes Robledo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Shinya Uchino Department of Endocrine Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Oita, Japan

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Anne Barlier Réseau TenGen, Marseille, France
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital La Conception, Marseille, France

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Christian Godballe Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark

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Jes Sloth Mathiesen Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark
Department of Clinical Research, University of Southern Denmark, Odense, Denmark

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IH Vriens MR . Differences between sporadic and MEN related primary hyperparathyroidism; clinical expression, preoperative workup, operative strategy and follow-up . Orphanet Journal of Rare Diseases 2013 8 50 . ( https://doi.org/10

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0163
Volume/Issue:
Volume 9: Issue 6
Open access