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Carole Morin Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Keo-Morakort Benedetto Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Agathe Deville Hospices Civils de Lyon, Hôpital Louis Pradel, Médecine Nucléaire, Bron, France
Centre de Recherche en Cancérologie de Lyon, UMR Inserm 1052 CNRS 5286, Lyon Cedex 08, France

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Laurent Milot Hospices Civils de Lyon, Hôpital Edouard Herriot, Radiologie, Lyon Cedex 03, France
University of Lyon, Université Lyon 1, France

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Aurélie Theillaumas Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Valérie Hervieu Centre de Recherche en Cancérologie de Lyon, UMR Inserm 1052 CNRS 5286, Lyon Cedex 08, France
University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Institut de Pathologie Est, Bron Cedex, France

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Mathieu Pioche University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Hôpital Edouard Herriot, Gastroentérologie, Lyon Cedex 03, France

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Gilles Poncet Centre de Recherche en Cancérologie de Lyon, UMR Inserm 1052 CNRS 5286, Lyon Cedex 08, France
University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Hôpital Edouard Herriot, Chirurgie Digestive, Lyon Cedex 03, France

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Julien Forestier Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Laurent François Hospices Civils de Lyon, Hôpital Louis Pradel, Exploration Fonctionnelle, Bron Cedex, France

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Francoise Borson-Chazot University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Hôpital Louis Pradel, Endocrinologie, Bron Cedex, France

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Mustapha Adham University of Lyon, Université Lyon 1, France
Hospices Civils de Lyon, Hôpital Edouard Herriot, Chirurgie Digestive, Lyon Cedex 03, France

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Catherine Lombard-Bohas Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France

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Thomas Walter Hospices Civils de Lyon, Hôpital Edouard Herriot, Oncologie Digestive, Lyon Cedex 03, France
Centre de Recherche en Cancérologie de Lyon, UMR Inserm 1052 CNRS 5286, Lyon Cedex 08, France
University of Lyon, Université Lyon 1, France

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Introduction Neuroendocrine neoplasm (NEN) is a rare disease, though its incidence is rising ( 1 , 2 ). NENs are heterogeneous diseases regarding the number of primary origins, clinical presentation, staging, grading, and prognosis. Their

Article Type:
Research Article
Collections:
Hormones and Cancer
DOI:
https://doi.org/10.1530/EC-22-0097
Volume/Issue:
Volume 11: Issue 6
Open access
Lukas Ochsner Ridder Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Agnethe Berglund Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics and Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Kirstine Stochholm Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark

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Simon Chang Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark

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. Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study . Orphanet Journal of Rare Diseases 2019 14 16. ( https://doi.org/10.1186/s13023-018-0976-2 ) 2 Berglund

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0024
Volume/Issue:
Volume 12: Issue 5
Open access
Nella Augusta Greggio Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Elisa Rossi CINECA – Interuniversity Consortium (Health Service), Bologna, Italy

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Silvia Calabria CORE srl – Collaborative Outcome Research, Bologna, Italy

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Alice Meneghin Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Joaquin Gutierrez de Rubalcava Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Carlo Piccinni CORE srl – Collaborative Outcome Research, Bologna, Italy

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Antonella Pedrini CORE srl – Collaborative Outcome Research, Bologna, Italy

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comorbidities were disability (12.4%), rare disease (10.6%), cardiovascular disease (8.5%), prematurity/immaturity (7.6%) and severe congenital physical/sensory/neurological deficits (4.7%). Moreover, 2.3% of our cohort had diabetes, 2.3% Down syndrome, 1

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0066
Volume/Issue:
Volume 6: Issue 6
Open access
Virginie Grouthier Department of Endocrinology and Reproductive Medicine, GH La Pitié-Salpêtrière Charles-Foix, Center for Rare Gynecological Diseases, Paris, France
Department of Endocrinology, Diabetes and Nutrition, University Hospital of Bordeaux, Bordeaux, France

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Zeina Chakhtoura Department of Endocrinology and Reproductive Medicine, GH La Pitié-Salpêtrière Charles-Foix, Center for Rare Gynecological Diseases, Paris, France

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Isabelle Tejedor Department of Endocrinology and Reproductive Medicine, GH La Pitié-Salpêtrière Charles-Foix, Center for Rare Gynecological Diseases, Paris, France

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Yasmina Badachi Department of General Radiology, GH La Pitié-Salpêtrière Charles-Foix, Paris, France

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Vincent Goffin Inserm U1151 – CNRS UMR 8253, Institut Necker Enfants Malades (INEM), Faculté de Médecine Paris Descartes, Paris, France

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Philippe Touraine Department of Endocrinology and Reproductive Medicine, GH La Pitié-Salpêtrière Charles-Foix, Center for Rare Gynecological Diseases, Paris, France
Sorbonne Université, F-75013, Paris, France

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breastfeeding, P = 0.09). Discussion MFA is a rare disease whose natural history still remains poorly understood. Our study found that the evolution MFA was close to that of single FAs. MFA evolved favorably, with a decrease or stability of the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0012
Volume/Issue:
Volume 9: Issue 6
Open access
Peng Fan Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Chao-Xia Lu McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Di Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Kun-Qi Yang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Pei-Pei Lu Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Ying Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xu Meng Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Su-Fang Hao Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Fang Luo Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Ya-Xin Liu Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Hui-Min Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lei Song Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Jun Cai Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xue Zhang McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xian-Liang Zhou Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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pathogenic mutations are in the 13th exons of SCNN1B and SCNN1G and disrupt the PY motif, an essential proline-rich structure in the ENaC subunit ( 6 ). Many physicians are unfamiliar with LS, which is a rare disease clinically. Additionally, the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0484
Volume/Issue:
Volume 7: Issue 12
Open access
Chunyun Fu Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Shiyu Luo Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yingfeng Li Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Qifei Li Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xuehua Hu Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Mengting Li Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yue Zhang Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jiasun Su Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xuyun Hu Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yun Chen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jin Wang Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Bobo Xie Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jingsi Luo Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xin Fan Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Shaoke Chen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yiping Shen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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(2016GXNSFBA380192, 2012GXNSFAA053174). References 1 Rastogi MV LaFranchi SH. Congenital hypothyroidism . Orphanet Journal of Rare Diseases 2010 5 17 . ( doi:10.1186/1750-1172-5-17 ) 20537182 10.1186/1750-1172-5-17 2 Hermanns P

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0289
Volume/Issue:
Volume 6: Issue 8
Open access
Lia Ferreira Department of Endocrinology, Centro Hospitalar do Porto, Porto, Portugal

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João Silva Department of Endocrinology, Hospital das Forças Armadas, Lisboa, Portugal

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Susana Garrido Department of Endocrinology, Centro Hospitalar Tâmega e Sousa, Porto, Portugal

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Carlos Bello Department of Endocrinology, Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal

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Diana Oliveira Department of Endocrinology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

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Hélder Simões Department of Endocrinology, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Isabel Paiva Department of Endocrinology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

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Joana Guimarães Department of Endocrinology, Centro Hospitalar do Baixo Vouga, Aveiro, Portugal

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Marta Ferreira Department of Endocrinology, Centro Hospitalar de Leiria, Leiria, Portugal

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Teresa Pereira Department of Endocrinology, Centro Hospitalar de Leiria, Leiria, Portugal

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Rita Bettencourt-Silva Department of Endocrinology, Centro Hospitalar de São João, Porto, Portugal

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Ana Filipa Martins Department of Endocrinology, Centro Hospitalar Lisboa Norte, Lisboa, Portugal

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Tiago Silva Department of Endocrinology, Hospital Garcia da Orta, Lisboa, Portugal

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Vera Fernandes Department of Endocrinology, Hospital de Braga, Braga, Portugal

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Maria Lopes Pereira Department of Endocrinology, Hospital de Braga, Braga, Portugal

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Adrenal Tumors Study Group of the Portuguese Society of Endocrinology Department of Endocrinology, Centro Hospitalar do Porto, Porto, Portugal

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Introduction Addison disease (AD) or primary adrenal insufficiency (PAI) is a life-threatening disease that results from bilateral destruction or dysfunction of the adrenal cortex ( 1 ). PAI is a rare disease with a reported prevalence of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0295
Volume/Issue:
Volume 6: Issue 8
Open access
Randi Ugleholdt Department of Endocrinology, Copenhagen University Hospital Herlev and Gentofte, Herlev, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Åse Krogh Rasmussen Department of Endocrinology and Metabolism, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark

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Pernille A H Haderslev Department of Anaesthesiology, Copenhagen University Hospital Herlev and Gentofte, Herlev, Denmark

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Bjarne Kromann-Andersen Department of Urology, Copenhagen University Hospital Herlev and Gentofte, Herlev, Denmark

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Claus Larsen Feltoft Department of Endocrinology, Copenhagen University Hospital Herlev and Gentofte, Herlev, Denmark

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departments have been involved in the preoperative treatment of this rare disease. However, we ended inclusion in 2015 as the institution traditionally aiming at a seated blood pressure below 130/80 mmHg started to administer higher PBZ dosage due to the

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Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-21-0539
Volume/Issue:
Volume 11: Issue 5
Open access
Malgorzata Fuksiewicz Laboratory of Tumor Markers, Department of Pathology and Laboratory Diagnostics, The Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland

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Maria Kowalska Laboratory of Tumor Markers, Department of Pathology and Laboratory Diagnostics, The Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland

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Agnieszka Kolasinska-Cwikla Department of Oncology and Radiotherapy, The Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland

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Beata Kotowicz Laboratory of Tumor Markers, Department of Pathology and Laboratory Diagnostics, The Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland

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) ( 13 ). Neuroendocrine tumours are a heterogeneous group of tumours originating from cells of the diffuse neuroendocrine system. These tumours are classified as rare diseases, although a steady increase in incidence has been observed. The analysis of

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Research Article
Collections:
Hormones and Cancer
DOI:
https://doi.org/10.1530/EC-21-0647
Volume/Issue:
Volume 11: Issue 9
Open access
Xiaoya Zheng Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Shanshan Yu Pathology Department, Chongqing Medical University, Chongqing, China

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Jian Long Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Qiang Wei Prevention of Disease Department, Chongqing Jiulongpo District Hospital of Traditional Chinese Medicine, Chongqing, China

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Liping Liu Department of Ultrasound, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Chun Liu Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Wei Ren Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

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better prognosis ( 13 ). There are some limitations to this study. First, we had a small population size for PTL and DSVPTC because both were rare diseases, and it was difficult to obtain many cases for the analysis. Secondly, we only retrospectively

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Research Article
Collections:
Hormones and Cancer
DOI:
https://doi.org/10.1530/EC-21-0364
Volume/Issue:
Volume 11: Issue 1
Open access