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Mojca Zerjav Tansek Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Ana Bertoncel University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Brina Sebez University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Janez Zibert Centre for Health Informatics and Statistics, Faculty of Health Sciences, University of Ljubljana, Ljubljana, Slovenia

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Urh Groselj Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Tadej Battelino Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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Magdalena Avbelj Stefanija Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC Ljubljana, Ljubljana, Slovenia
University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia

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://doi.org/10.1007/PL00014234 ) 9 Demirdas S Coakley KE Bisschop PH Hollak CE Bosch AM Singh RH . Bone health in phenylketonuria: a systematic review and meta-analysis . Orphanet Journal of Rare Diseases 2015 10 17 . ( https://doi.org/10

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0214
Volume/Issue:
Volume 9: Issue 7
Open access
Sofya Gronskaia Endocrinology Research Centre, Moscow, Russia

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Galina Melnichenko Endocrinology Research Centre, Moscow, Russia

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Liudmila Rozhinskaya Endocrinology Research Centre, Moscow, Russia

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Tatiana Grebennikova Endocrinology Research Centre, Moscow, Russia

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Elizaveta Mamedova Endocrinology Research Centre, Moscow, Russia

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Ekaterina Pigarova Endocrinology Research Centre, Moscow, Russia

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Elena Przhialkovskaya Endocrinology Research Centre, Moscow, Russia

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Larisa Dzeranova Endocrinology Research Centre, Moscow, Russia

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Ivan Dedov Endocrinology Research Centre, Moscow, Russia

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Valentin Fadeyev I.M. Sechenov First Moscow State Medical University, Moscow, Russia

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Maria Luisa Brandi University of Florence, Surgery and Translational Medicine, Piereccaini, Firenze, Italy

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Zhanna Belaya Endocrinology Research Centre, Moscow, Russia

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Introduction Hypoparathyroidism and pseudohypoparathyroidism (PHP) are rare diseases, which are characterized by hypocalcemia due to low parathyroid hormone (PTH) or resistance to its action ( 1 ). Inadequate PTH levels result in biochemical

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0219
Volume/Issue:
Volume 9: Issue 7
Open access
Ailsa Maria Main Department of Medical Endocrinology and Metabolism, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

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Maria Rossing Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

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Line Borgwardt Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

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Birgitte Grønkær Toft Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

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

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Ulla Feldt-Rasmussen Department of Medical Endocrinology and Metabolism, Copenhagen University Hospital, Rigshospitalet, and Faculty of Health, Institute of Clinical and Scientific Research, Copenhagen, Denmark

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from all relevant individuals. The registry has previously been validated as a valuable tool for research in rare diseases ( 27 ). Our study included all patients diagnosed since 1 January 2006 in the Department of Endocrinology, Copenhagen University

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0279
Volume/Issue:
Volume 9: Issue 8
Open access
Diana-Alexandra Ertl Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Andreas Gleiss Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Vienna, Austria

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Katharina Schubert Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Caroline Culen Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Peer Hauck Pediatric Heart Center Vienna, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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Johannes Ott Clinic Division for Gynecologic Endocrinology and Reproductive Medicine, Medical University of Vienna, Vienna, Austria

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Alois Gessl Division of Endocrinology, University Clinic of Internal Medicine III, Medical University of Vienna, Vienna, Austria

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Gabriele Haeusler Department of Pulmonology, Allergology and Endocrinology, University Clinic for Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

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multidisciplinary teams become a reality, we have to individualize medical care for groups of patients with rare diseases as far as institutional resources allow. We propose a ‘longitudinal multidisciplinary model’ of medical care. The pediatric endocrinologist in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0053
Volume/Issue:
Volume 7: Issue 4
Open access
Yang Lv Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China

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Xu Han Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China

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Chunyan Zhang Department of Clinical Laboratory, Zhongshan Hospital, Fudan University, Shanghai, China

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Yuan Fang Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China

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Ning Pu Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China

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Yuan Ji Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China

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Dansong Wang Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China

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Xu Xuefeng Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China

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Wenhui Lou Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China

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identified but the volume of the exploration for the diagnostic value of CgA was low ( 9 , 14 , 15 ). Meanwhile, majority of the research included a relatively small size of samples because NETs are a kind of rare disease. Our study demonstrated in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0276
Volume/Issue:
Volume 7: Issue 1
Open access
Ja Hye Kim Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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disorders . Orphanet Journal of Rare Diseases 2019 14 153. ( https://doi.org/10.1186/s13023-019-1127-0 ) 38 Bergman JE Bocca G Hoefsloot LH Meiners LC van Ravenswaaij-Arts CM . Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-21-0522
Volume/Issue:
Volume 11: Issue 2
Open access
Julia Beckhaus Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky Universität, Klinikum Oldenburg AöR, Oldenburg, Germany
Division of Epidemiology and Biometry, Carl von Ossietzky Universität, Oldenburg, Germany

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Maria Eveslage Institute of Biostatistics and Clinical Research, University of Münster, Münster, Germany

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Brigitte Bison Diagnostic and Interventional Neuroradiology, Faculty of Medicine, University of Augsburg, Augsburg, Germany

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Carsten Friedrich Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky Universität, Klinikum Oldenburg AöR, Oldenburg, Germany

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Hermann L Müller Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky Universität, Klinikum Oldenburg AöR, Oldenburg, Germany

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were not available for analyses. Usually, the rareness of the disease results in certain limitations due to low cohort size. However, in our analyses the cohort size of 292 patients with this rare disease should be pointed out as a strength of our study

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0126
Volume/Issue:
Volume 13: Issue 8
Open access
I M A A van Roessel Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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J P de Graaf Dutch Pituitary Foundation, Nijkerk, The Netherlands
Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Endo-ERN European Reference Network on Rare endocrine conditions

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N R Biermasz Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Endo-ERN European Reference Network on Rare endocrine conditions

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E Charmandari Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Aghia Sophia Children's Hospital, Athens, Greece
Division of Endocrinology and Metabolism, Center for Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece

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H M van Santen Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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treatment for a brain tumor is a rare disease and patients may encounter difficulties in receiving optimal health care. Delay in recognition of signs and symptoms, difficulties in timely referral or assigning the correct treatment may occur. HD can have

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0147
Volume/Issue:
Volume 12: Issue 10
Open access
Kirsten Davidse Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anneloes van Staa Research Centre Innovations in Care, Rotterdam University of Applied Sciences, Rotterdam, the Netherlands

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Wanda Geilvoet Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Judith P van Eck Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Karlijn Pellikaan Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Janneke Baan Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anita C S Hokken-Koelega Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands

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Erica L T van den Akker Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Theo Sas Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands

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Sabine E Hannema Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Department of Paediatrics, Leiden University Medical Centre, Leiden, the Netherlands

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Aart Jan van der Lely Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Laura C G de Graaff Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Pitteloud N . Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support . Orphanet Journal of Rare Diseases 2014 9 83

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0025
Volume/Issue:
Volume 11: Issue 5
Open access
Georgios Kontogeorgos Section for Geriatrics and Emergency Medicine, Department of Medicine, Sahlgrenska University Hospital/Ostra, Gothenburg, Sweden
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Zoi Mamasoula Section for Geriatrics and Emergency Medicine, Department of Medicine, Sahlgrenska University Hospital/Ostra, Gothenburg, Sweden
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Emily Krantz Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Respiratory Medicine and Allergology, Sahlgrenska University Hospital, Gothenburg, Sweden

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Penelope Trimpou Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Section for Endocrinology, Department of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden

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Kerstin Landin-Wilhelmsen Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Section for Endocrinology, Department of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden

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Christine M Laine Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Endocrine Out-Patient Clinic, Carlanderska Hospital, Gothenburg, Sweden

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total thyroidectomy ( 7 ). When surgery is indicated, experienced surgeons at high-volume centers should perform the procedure to lower the risk of postoperative HypoPT. HypoPT is a rare disease where the hormone substitution has been lacking until

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-21-0379
Volume/Issue:
Volume 11: Issue 1
Open access