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Lukas Plachy Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Lenka Petruzelkova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Petra Dusatkova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Klara Maratova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Dana Zemkova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Lenka Elblova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Vit Neuman Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Stanislava Kolouskova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Barbora Obermannova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Marta Snajderova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Zdenek Sumnik Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Jan Lebl Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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Stepanka Pruhova Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic

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.1038/nrendo.2016.138 ) 34 Van Der BI . Noonan syndrome . Orphanet Journal of Rare Diseases 2007 2 1 . 35 Gibson BG & Briggs MD . The aggrecanopathies; An evolving phenotypic spectrum of human genetic skeletal diseases . Orphanet Journal of Rare

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0238
Volume/Issue:
Volume 12: Issue 10
Open access
Savi R Shishkov Department of Endocrinology, Medical University of Varna, Clinic of Endocrinology, UMHAT “Sveta Marina”, Varna, Bulgaria
Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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Luigi Tuccillo Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands
Università “Federico II” di Napoli, Dipartimento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Naples, Italy

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Violeta M Iotova Department of Pediatrics, Medical University of Varna, First Pediatric Clinic with Intensive Care, UMHAT “Sveta Marina”, Varna, Bulgaria

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Rosario Pivonello Università “Federico II” di Napoli, Dipartimento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Naples, Italy

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Iris CM Pelsma Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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Alberto M Pereira Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands
Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology & Metabolism, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, Netherlands

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Nienke R Biermasz Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands
Adult Chair of MTG Pituitary of Endo-ERN

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the Endo-ERN Reference Centers of the Main Thematic Group: Hypothalamic and Pituitary Conditions, Endo-ERN Pituitary Transition of Care Study Group
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the Endo-ERN Reference Centers of the Main Thematic Group: Hypothalamic and Pituitary Conditions, Endo-ERN Pituitary Transition of Care Study Group

management of rare diseases – the multidisciplinary team – is an integral part of the transition process. The present observations confirm that the circumstances required for structured transition program may already be present at most of the RCs

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0308
Volume/Issue:
Volume 12: Issue 2
Open access
Claus H Gravholt Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

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Alberto Ferlin Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy

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Joerg Gromoll Centre of Reproductive Medicine and Andrology, Münster, Germany

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Anders Juul Department of Growth and Reproduction Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark

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Armin Raznahan Section on Developmental Neurogenomics, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA

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Sophie van Rijn Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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

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Nicole Tartaglia Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

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Hanna Swaab Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

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syndrome: a nationwide cohort study . Orphanet Journal of Rare Diseases 2019 14 16 . ( https://doi.org/10.1186/s13023-018-0976-2 ) 78 Gravholt CH Chang S Wallentin M Fedder J Moore P Skakkebaek A . Klinefelter syndrome: integrating genetics

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0500
Volume/Issue:
Volume 12: Issue 3
Open access
Yi Wang Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Yingying Xu Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

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Rongrong Xie Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China

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Bingyan Cao Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Yuan Ding Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Jiayun Guo Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Xiaoqiao Li Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Xiaolin Ni Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Zheng Yuan Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Linqi Chen Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China

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Liyang Liang Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

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Chunxiu Gong Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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manifestations (arrhythmias or blood pressure dysregulation), or gastrointestinal disturbances ( 7 ). ROHHAD syndrome is a rare disease, for which misdiagnosis or delayed diagnosis is common. Patients often visit different departments because of symptoms such

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0189
Volume/Issue:
Volume 13: Issue 11
Open access
A Al-Sharefi Department of Endocrinology, The Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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P Perros Department of Endocrinology, The Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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R A James Department of Endocrinology, The Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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NF-1 and underscore the impact of PHAEO/PG under-recognition. Further prospective studies are needed to ascertain if applying such screening strategy can reduce the rate of complications and improve prognosis in this relatively rare disease but until

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0208
Volume/Issue:
Volume 7: Issue 10
Open access
Anna-Pauliina Iivonen Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland

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Johanna Känsäkoski Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland

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Kirsi Vaaralahti Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland

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Taneli Raivio Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland
New Children’s Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland

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syndrome in Finland . Orphanet Journal of Rare Diseases 2011 6 41 . ( https://doi.org/10.1186/1750-1172-6-41 ) 21682876 10.1186/1750-1172-6-41 28 Lek M Karczewski KJ Minikel EV Samocha KE Banks E Fennell T O’Donnell-Luria AH Ware JS Hill AJ

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0080
Volume/Issue:
Volume 8: Issue 5
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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systematic evaluation of pubertal induction (methods and outcomes) in testosterone-naïve older men with congenital hypogonadism. Subject to necessarily limited patient numbers accruing to a less common presentation of a rare disease, we have demonstrated that

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0241
Volume/Issue:
Volume 7: Issue 1
Open access
Jung Soo Lim Department of Internal Medicine, Institute of Evidence-Based Medicine, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, Gangwon-do, South Korea

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Seung-Eun Lee Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul, South Korea

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Jung Hee Kim Department of Internal Medicine, Seoul National University College of Medicine, Jongno-gu, Seoul, South Korea

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Jae Hyeon Kim Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul, South Korea

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The Korean Adrenal Gland and Endocrine Hypertension Study Group, Korean Endocrine Society
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Introduction Adrenocortical carcinoma (ACC) is a rare disease with an estimated annual incidence of 0.7–2.0 per million population ( 1 , 2 ). The prevalence of ACC varies depending on the circumstances under which patient data are collected

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0196
Volume/Issue:
Volume 9: Issue 6
Open access
Avinaash Maharaj Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Ruth Kwong Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Jack Williams Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Christopher Smith Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Helen Storr Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Ruth Krone Birmingham Children’s Hospital, Birmingham, UK

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Debora Braslavsky Centro de Investigaciones Endocrinológicas ‘Dr. Cesar Bergadá’ (CEDIE) – CONICET – FEI – División de Endocrinología, Hospital de Niños ‘Ricardo Gutiérrez’, Buenos Aires, Argentina

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Maria Clemente Paediatric Endocrinology, Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Hospital Vall d’Hebron, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain

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Nanik Ram Department of Endocrinology, The Aga Khan University Hospital, Karachi, Pakistan

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Indraneel Banerjee Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK

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Semra Çetinkaya Health Sciences University, Dr. Sami Ulus Obstetrics and Gynaecology, Children’s Health and Disease Education and Research Hospital, Ankara, Turkey

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Federica Buonocore Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK

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Tülay Güran Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey

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John C Achermann Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK

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Louise Metherell Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Rathi Prasad Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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within this rare disease extends beyond PAI, and in contrast to other disorders of sphingolipid metabolism, SPLIS is associated with multiple endocrinopathies. In this study, we detail the endocrine phenotypes associated with the reported genotypes within

Article Type:
Review Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0250
Volume/Issue:
Volume 11: Issue 8
Open access
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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:1023252107120 ) 32 Giusti F Cioppi F Fossi C Marini F Masi L Tonelli F Brandi ML . Quality of life in Italian patients with multiple endocrine neoplasia type 1 (MEN 1): results of an extensive survey . Orphanet Journal of Rare Diseases 2021 16

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