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S R Ali Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK

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J Bryce Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK

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A L Priego-Zurita Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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M Cherenko Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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C Smythe Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK

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T M de Rooij Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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M Cools Department of Internal Medicine and Paediatrics, Ghent University, Belgium
Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

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T Danne Diabetes Center AUF DER BULT, Hannover, Germany

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H Katugampola UCL GOS Institute of Child Health, London

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O M Dekkers Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands

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O Hiort Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany

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A Linglart AP-HP, Université Paris Saclay, INSERM, Bicêtre Paris Saclay Hospital, le Kremlin Bicêtre, France

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I Netchine Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France

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A Nordenstrom Pediatric Endocrinology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

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P Attila Clinical Genetics and Endocrinology Laboratory, Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary

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L Persani Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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N Reisch Endokrinologie, Medizinische Klinik Innenstadt und Poliklinik IV, Klinikum der Universität München, Munich, Germany

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A Smyth Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK

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

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D Taruscio National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

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W E Visser Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, the Netherlands

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A M Pereira Department of Endocrinology and Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands

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N M Appelman-Dijkstra Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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S F Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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, registries have the potential to facilitate surveillance, audit and research. Generally, rare disease registries tend to focus more on the collection of detailed natural history data than support epidemiological research. On the other hand, linked datasets

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0434
Volume/Issue:
Volume 12: Issue 12
Open access
Antonella Giampietro Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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Sabrina Chiloiro Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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Claudio Urbani Endocrinology II Unit, Department of Medicine, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy

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Rosario Pivonello Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Università Federico II di Napoli, Naples, Italy

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Martin Ove Carlsson Global Medical Affairs, Pfizer Rare Disease, Brussels, Belgium

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Francesca Dassie Department of Medicine - DIMED, University of Padua, Padua, Italy

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Nunzia Prencipe Division of Endocrinology, Diabetology and Metabolism, Department of Medical Science, University of Turin, Turin, Italy

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Marta Ragonese Unit of Endocrinology, Department of Human Pathology, University of Messina, Messina, Italy

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Roy Gomez Global Medical Affairs, Pfizer Rare Disease, Brussels, Belgium

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Simona Granato Medical Department, Pfizer Italia, Rome, Italy

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Salvatore Cannavò Unit of Endocrinology, Department of Human Pathology, University of Messina, Messina, Italy

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Silvia Grottoli Division of Endocrinology, Diabetology and Metabolism, Department of Medical Science, University of Turin, Turin, Italy

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Pietro Maffei Department of Medicine - DIMED, University of Padua, Padua, Italy

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Annamaria Colao Dipartimento Di Medicina Clinica E Chirurgia, Sezione Di Endocrinologia, Università Federico II di Napoli, Naples, Italy

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Fausto Bogazzi Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Antonio Bianchi Pituitary Unit, Department of Endocrinology, Fondazione A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy

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patients who participated in the study. References 1 Chanson P & Salenave S . Acromegaly . Orphanet Journal of Rare Diseases 2008 3 17 . ( https://doi.org/10.1186/1750-1172-3-17 ) 2 Colao A Grasso LFS Giustina A Melmed S Chanson

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0247
Volume/Issue:
Volume 13: Issue 3
Open access
Nelma Veronica Marques Neuroendocrinology Research Center, Endocrinology Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

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Luiz Eduardo Armondi Wildemberg Neuroendocrinology Research Center, Endocrinology Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

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Monica R Gadelha Neuroendocrinology Research Center, Endocrinology Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

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half of the normal range who have hyperglycaemia. Declaration of interest MG has received speaker fees from Recordati Rare Diseases, Ipsen, Crinetics Pharmaceuticals, and Novo Nordisk and attended advisory boards for Novo Nordisk, Recordati Rare

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0155
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
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
Stefan M Constantinescu Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Thierry Duprez Department of Radiology, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Edward Fomekong Department of Neurosurgery, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Christian Raftopoulos Department of Neurosurgery, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Orsalia Alexopoulou Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Dominique Maiter Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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, Clinical investigation of pituitary incidentalomas: a two-center study . Intractable and Rare Diseases Research 2019 8 239 – 244 . ( https://doi.org/10.5582/irdr.2019.01083 ) 13 Iglesias P Cardona J & Díez JJ . The pituitary in nuclear medicine

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Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0224
Volume/Issue:
Volume 12: Issue 12
Open access
Vanderlan O Batista Division of Psychiatry, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Michael Kellner Department of Psychiatry and Psychotherapy, University Hospital Hamburg-Eppendorf, Hamburg, Germany and Technical University of Munich, Munich, Germany

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Roberto Salvatori Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Walter Lisboa Department of Psychology, Federal University of Sergipe, São Cristovão, Sergipe, Brazil

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André Faro Postgraduate Program in Psychology, Federal University of Sergipe, São Cristovão, Sergipe, Brazil

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Lucas B Santos Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Enaldo V Melo Statistics division, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Alécia A Oliveira-Santos Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Carla R P Oliveira Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Viviane C Campos Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Cynthia S Barros-Oliveira Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Elenilde G Santos Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Nathalie O Santana Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Keila R Villar-Gouy Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Ângela C Leal Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Rivia S Amorim Division of Geriatrics, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Davi A Oliveira Simões Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Manuel H Aguiar-Oliveira Division of Endocrinology, Health Sciences Graduate Program, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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sample size calculation for clinical trials in rare diseases . Pharmaceutical Statistics 2018 17 214 – 230 . ( https://doi.org/10.1002/pst.1848 )

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0401
Volume/Issue:
Volume 13: Issue 1
Open access