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Alexander A L Jorge Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil

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Thomas Edouard Endocrine, Bone Diseases, and Genetics Unit, Children’s Hospital, Toulouse University Hospital, RESTORE INSERM UMR1301, Toulouse, France

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Mohamad Maghnie Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy

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Alberto Pietropoli Novo Nordisk Health Care AG, Global Medical Affairs Biopharm, Zürich, Switzerland

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Nicky Kelepouris Novo Nordisk Inc., Clinical, Medical and Regulatory Biopharm-RED, Plainsboro, New Jersey, USA

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Alicia Romano Department of Pediatrics, New York Medical College, Valhalla, New York, USA

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Martin Zenker Institute of Human Genetics & Department of Pediatrics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany

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Reiko Horikawa Department of Endocrine and Metabolism, National Center for Child Health and Development, Tokyo, Japan

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a subset of pooled data from the observational American Norditropin Studies: Web-Enabled Research (ANSWER) Program® (NCT01009905) and the GHLIQUID-4020 clinical trial (NCT01927861). The design of these studies has been previously described in detail

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-21-0615
Volume/Issue:
Volume 11: Issue 4
Open access
Violeta Iotova Department of Pediatrics, Medical University of Varna, Varna, Bulgaria

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Camilla Schalin-Jäntti Department of Endocrinology, Abdominal Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Charlotte Van Beuzekom Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, the Netherlands

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Petra Bruegmann Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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Manuela Broesamle Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands

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

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Alberto M Pereira Department of Endocrinology and Metabolism, Amsterdam University Medical Center, Amsterdam, the Netherlands

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closing remarks. The Endo-ERN PM acted as a host to every webinar in order to facilitate the process of answering questions and to tackle potential technical issues as well as to look after interactivity and participants' engagement. The first webinar

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0512
Volume/Issue:
Volume 12: Issue 9
Open access
Régis Coutant Department of Pediatric Endocrinology and Diabetology, Reference Center for Rare Pituiatry Diseases, University Hospital of Angers, Angers, France

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Maithé Tauber Reference Center for the Prader-Willi syndrome and other rare obesities with feeding disorders (PRADORT), Children Hospital, CHU Toulouse, Toulouse, France
Pediatric team of the Clinical Investigation Center 9302/INSERM, Hospital of Children, Toulouse, France
Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), INSERM UMR1291 - CNRS UMR5051 - Université Toulouse III, Toulouse, France

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Béatrice Demaret GRANDIR - French Growth Disorders Association, Asnières-sur-Seine, France

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Robin Henocque Pfizer France, Paris France

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Yves Brault Pfizer France, Paris France

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François Montestruc eXYSTAT, Malakoff, France

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Olivier Chassany Health Economics Clinical Trial Unit (URC-ECO), Hospital of Hotel-Dieu, AP-HP, Paris, France
Patient-Reported Outcomes Unit (PROQOL), UMR 1123, University Paris Cité, INSERM, Paris, France

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Michel Polak Hôpital Universitaire Necker Enfants Malades, Pediatric Endocrinology, Gynecology and Diabetology, Imagine Institute, INSERM U1163, Cochin Institute, INSERM U1016, Centre de référence des pathologies endocriniennes rares de la croissance et du développement, Université de Paris Cité, Paris, France

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the QOLITHOR Study Group
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the QOLITHOR Study Group

.9%) 23 (25.3%) 43 (15.6%) 6 (13.6%) 8 (11.6%) 18 (34.0%) 32 (19.3%) Current occupation of the answering parent/caregiver, n (%)  Professional activity 59 (96.7%) 79 (92.9%) 66 (88.0%) 204 (92.3%) 36 (97

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0464
Volume/Issue:
Volume 12: Issue 4
Open access
Mireille N M van Poppel Institute of Human Movement Sciences, Sport and Health, University of Graz, Graz, Austria

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Christopher J Nolan Department of Endocrinology at The Canberra Hospital and the Australian National University School of Medicine and Psychology, Canberra, ACT, Australia

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Gernot Desoye Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria

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known to cause PA has been reported ( 4 ). In this article we report a semiquantitative analysis of literature data of PA cases, with inclusion only of cases with confirmed complete PA. The aim was to answer the following two research questions

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0500
Volume/Issue:
Volume 13: Issue 3
Open access
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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cohort. Finding a monogenic cause of a growth disorder is important from both a clinical and scientific point of view. After obtaining the genetic diagnosis, the clinician and the family will finally obtain the answer as to why the child is not growing

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0238
Volume/Issue:
Volume 12: Issue 10
Open access
Martin Bidlingmaier Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig-Maximilians University, Munich, Germany

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Helena Gleeson Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK

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Ana-Claudia Latronico Department of Internal Medicine, Discipline of Endocrinology and Metabolism, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil

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Martin O Savage Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK

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diagnosis and management of young patients with endocrine disorders to participating clinicians and answered questions related to their presentations. The aims of the webinar, and thus this review, were three-fold: (i) to explain how precision medicine can

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0177
Volume/Issue:
Volume 11: Issue 10
Open access
Christine Poitou Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France

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Anthony Holland Department of Psychiatry, University of Cambridge, UK

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Charlotte Höybye Department of Endocrinology and Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden

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Laura C G de Graaff Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands

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Sandrine Bottius Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France

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Berit Otterlei Landsforeningen for Prader-Willis Syndrom Hiltonåsen, Slependen, Norway

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Maithé Tauber Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service d’Endocrinologie, Obésités, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, Toulouse, France

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transition taking place. In reality, the cause may be the onset of illness requiring diagnosis and effective treatment. What is needed? There are no easy answers, but the risk of such transition-related problems can be reduced through understanding

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0373
Volume/Issue:
Volume 12: Issue 1
Open access