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Marília D’Elboux Guimarães Brescia Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Karine Candido Rodrigues Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Endocrine Oncology Division, Institute of Cancer of the State of São Paulo (ICESP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, São Paulo, Brazil

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André Fernandes d’Alessandro Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Wellington Alves Filho Department of Surgery, Walter Cantidio University Hospital, Federal University of Ceara School of Medicine (FAMED-UFC), Fortaleza, Brazil

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Willemijn Y van der Plas Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

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Schelto Kruijff Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

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Sergio Samir Arap Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Sergio Pereira de Almeida Toledo Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil

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Fábio Luiz de Menezes Montenegro Parathyroid Unit – LIM-28, Laboratório de Cirurgia de Cabeça e Pescoço, Division of Head and Neck Surgery, Department of Surgery, Hospital das Clinicas (HCFMUSP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Delmar Muniz Lourenço Jr Endocrine Genetics Unit (LIM-25), Endocrinology Division, University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Hospital das Clinicas (HCFMUSP), São Paulo, São Paulo, Brazil
Endocrine Oncology Division, Institute of Cancer of the State of São Paulo (ICESP), University of São Paulo School of Medicine (FMUSP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, São Paulo, Brazil

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Background Multiple endocrine neoplasia type 1 (MEN1) (#131100) is an autosomal dominant inherited syndrome mainly caused by germline mutations in the MEN1 tumoral suppressor gene ( 1 , 2 ). Most mutation carriers will develop at least one

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-22-0021
Volume/Issue:
Volume 11: Issue 6
Open access
Sebastian Franik Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands

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Kathrin Fleischer Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands

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Barbara Kortmann Department of Pediatric Urology, Radboudumc, Nijmegen, The Netherlands

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Nike M Stikkelbroeck Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands

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Kathleen D’Hauwers Department of Urology, Radboudumc, Nijmegen, The Netherlands

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Claire Bouvattier Department of Pediatric Endocrinology, Bicêtre Hospital, Paris Sud University, Paris, France

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Jolanta Slowikowska-Hilczer Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Lodz, Poland

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Solange Grunenwald Department of Endocrinology and Metabolic Disease, Centre Hospitalier Universitaire de Toulouse, Toulouse, France

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Tim van de Grift Departments of Plastic Surgery and Medical Psychology, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands

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Audrey Cartault Department of Pediatrics, Hospital des Enfants, Toulouse, France

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Annette Richter-Unruh Kinderendokrinologie und Diabetologie, Universitätsklinikum Ruhr-Universität Bochum, Kinderklinik, Bochum, Germany

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Nicole Reisch Medizinische Klinik and Poliklinik IV, Department of Endocrinology, University Hospital Munich, Munich, Germany

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Ute Thyen Klinik fur Kinder- und Jugendmedizin, Universitat zu Lubeck, Lubeck, Germany

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Joanna IntHout Department for Health Evidence, Radboudumc, Nijmegen, The Netherlands

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Hedi L Claahsen-van der Grinten Department of Pediatric Endocrinology, Amalia Childrens Hospital, Radboudumc, Nijmegen, The Netherlands

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the dsd-LIFE Group
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the dsd-LIFE Group

Introduction Klinefelter syndrome (KS), caused by at least one additional X-chromosome in males (47,XXY), is one of the most common numerical chromosomal anomalies in men, with an estimated prevalence of 1–2 per 1000 men ( 1 ). Despite the

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0010
Volume/Issue:
Volume 11: Issue 7
Open access
Agnieszka Pazderska Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
Department of Endocrinology, St James’s Hospital, Dublin, Ireland

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Yaasir Mamoojee Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Satish Artham Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Margaret Miller Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Stephen G Ball Department of Endocrinology, Central Manchester University Hospitals, Manchester, UK
Department of Endocrinology, University of Manchester, Manchester, UK

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Tim Cheetham Endocrine Research Group, Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle upon Tyne, UK
Department of Paediatric Endocrinology & Diabetes, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Richard Quinton Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
Endocrine Research Group, Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle upon Tyne, UK

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medical specialties other than paediatrics? Herein, we present our experience of a simple 1-year (fixed-dose; fixed-interval) completion-of-puberty regime with IM testosterone in older CHH men, presenting with untreated (or minimally treated) puberty. This

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0241
Volume/Issue:
Volume 7: Issue 1
Open access
Simon Chang Unit for Thrombosis Research, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark
Department of Clinical Biochemistry, Hospital of South West Jutland, Esbjerg, Denmark
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Internal Medicine, Lillebaelt Hospital, Kolding, Denmark

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Arkadiusz J Goszczak NanoSYD, The Mads Clausen Institute, University of Southern Denmark, Sønderborg, Denmark

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Anne Skakkebæk Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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Jens Fedder Centre of Andrology and Fertility Clinic, Odense University Hospital, Odense, Denmark

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Anders Bojesen Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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M Vakur Bor Unit for Thrombosis Research, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark
Department of Clinical Biochemistry, Hospital of South West Jutland, Esbjerg, Denmark

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Moniek P M de Maat Unit for Thrombosis Research, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark
Department of Clinical Biochemistry, Hospital of South West Jutland, Esbjerg, Denmark
Department of Haematology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands

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Claus H Gravholt Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Anna-Marie B Münster Unit for Thrombosis Research, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark
Department of Clinical Biochemistry, Hospital of South West Jutland, Esbjerg, Denmark

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Introduction The risk of venous thromboembolism (VTE) among men born with Klinefelter syndrome (KS, 47,XXY) overall is increased more than four-fold ( 1 , 2 , 3 ). In particular, the relative risk of VTE in KS compared with the background

Article Type:
Research Article
Collections:
Cardiovascular
DOI:
https://doi.org/10.1530/EC-21-0490
Volume/Issue:
Volume 11: Issue 5
Open access
Ruth Therese Casey Department of Endocrinology, University of Cambridge, Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Deborah Saunders East Anglian Regional Radiation Protection Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Benjamin George Challis Department of Endocrinology, University of Cambridge, Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Deborah Pitfield Department of Endocrinology, University of Cambridge, Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Heok Cheow Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Ashley Shaw Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Helen Lisa Simpson Wolfson Diabetes and Endocrine Clinic, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Introduction Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine neoplasia syndrome characterised by autosomal dominant inheritance of mutations in MENIN , a tumour suppressor gene. Patients with MEN1 typically develop

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0006
Volume/Issue:
Volume 6: Issue 3
Open access
Simon Chang Unit for Thrombosis Research, Institute of Regional Health Research, University of Southern Denmark and Department of Clinical Biochemistry, Hospital of South West Denmark, Esbjerg, Denmark
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus N, Denmark

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Christian Fynbo Christiansen Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus N, Denmark

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Anders Bojesen Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark

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Svend Juul Department of Public Health, Aarhus University, Aarhus C, Denmark

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Anna-Marie B Münster Unit for Thrombosis Research, Institute of Regional Health Research, University of Southern Denmark and Department of Clinical Biochemistry, Hospital of South West Denmark, Esbjerg, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus N, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark

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Introduction Men with 47,XXY Klinefelter syndrome (KS) commonly present hypergonadotropic hypogonadism and are commonly treated with testosterone supplementation therapy ( 1 ). However, this treatment is almost entirely based on our knowledge

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0433
Volume/Issue:
Volume 9: 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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://doi.org/10.1186/1756-6614-6-S1-S2 ) 70 Skandarajah A Barlier A Morlet-Barlat N Sebag F Enjalbert A Conte-Devolx B Henry JF . Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0163
Volume/Issue:
Volume 9: Issue 6
Open access
Christian Trummer Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

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

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

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Barbara Obermayer-Pietsch Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

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Elisabeth Lerchbaum Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Graz, Austria

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explain the association between vitamin D deficiency and insulin resistance were proposed: As the transcription of the insulin gene is activated by 1,25(OH) 2 D and the vitamin D-responsive element is present in the promoter region of the human insulin

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0009
Volume/Issue:
Volume 7: Issue 3
Open access
Malgorzata Oczko-Wojciechowska Department of Genetic and Molecular Diagnostics of Cancer, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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

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Tomasz Gawlik Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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

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Jolanta Krajewska Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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during bone formation, was also found by other transcriptomic studies as one of the most upregulated genes in MEN2B ( 63 ). Jain et al . proposed the chondromodulin-1 gene ( CHM1 ) as a candidate gene associated with skeletal abnormalities observed in

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0374
Volume/Issue:
Volume 9: Issue 12
Open access
Xiao-Ping Qi Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China

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Jian-Zhong Peng Department of Dermatology, Hangzhou Third People’s Hospital, Hangzhou, Zhejiang Province, China

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Xiao-Wei Yang Department of Pediatrics, The First People’s Hospital of Wenling City, Wenling, Zhejiang Province, China

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Zhi-Lie Cao Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China

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Xiu-Hua Yu Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China

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Xu-Dong Fang Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China

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Da-Hong Zhang Department of Urologic Surgery, Zhejiang Provincial People’s Hospital, People’s Hospital of Hangzhou Medical College, Hangzhou, Zhejiang Province, China

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Jian-Qiang Zhao Department of Head and Neck Surgery, Zhejiang Cancer Hospital, Hangzhou, Zhejiang Province, China

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by the Ethical Committees of the 117th PLA Hospital. Figure 1 Pedigree of the southern five-generation Chinese family members with MEN 2A associated with CLA and the RET C611Y mutation. Circles and squares, female (F) and male (M) family

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0220
Volume/Issue:
Volume 7: Issue 9
Open access