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Julia Beckhaus Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany
Division of Epidemiology and Biometry, Carl von Ossietzky University, Oldenburg, Germany

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

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Katrin Scheinemann Pediatric Hematology-Oncology Center, Children’s Hospital of Eastern Switzerland, St. Gallen, Switzerland
Faculty of Health Sciences and Medicine, University of Lucerne, Lucerne, Switzerland
Department of Pediatrics, McMaster Children’s Hospital and McMaster University, Hamilton, Ontario, Canada

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Freimut H Schilling Department of Pediatrics, Division of Pediatric Hematology and Oncology, Children’s Hospital Lucerne, Lucerne, Switzerland

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Gudrun Fleischhack Pediatrics III, University Hospital of Essen, Essen, Germany

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Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University Tübingen, Tübingen, Germany

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

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Torsten Pietsch Institute of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn Medical Center, Bonn, Germany

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

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cases of congenital craniopharyngioma (cCP). We analyzed prenatal diagnostic findings, postnatal evaluation, and therapeutic interventions and outcome in these three cases of cCP. Patients and methods Patient cohorts and methods Between 2007

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0294
Volume/Issue:
Volume 12: Issue 12
Open access
Xiaonan Guo Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Wenjing Hu Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xiaorui Lyu Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Hanyuan Xu Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Huijuan Zhu Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Hui Pan Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Linjie Wang Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Hongbo Yang Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Fengying Gong Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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secondary deficiency of IGF-1 ( 1 ). Several studies have shown that congenital GHD is associated with an increased risk of metabolic syndromes, such as nonalcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), and hyperlipidemia ( 4

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0462
Volume/Issue:
Volume 13: Issue 5
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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deficits of other pituitary hormones with inadequacy of the respective replacement therapies ( 27 ). IGHD is rare and often treated with GH replacement therapy during childhood. Therefore, the Itabaianinha cohort, with severe congenital and mostly untreated

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
Lukas Plachy Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Petra Dusatkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Klara Maratova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Shenali Anne Amaratunga Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Dana Zemkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Vit Neuman Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stanislava Kolouskova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Barbora Obermannova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Marta Snajderova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Zdenek Sumnik Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Jan Lebl Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stepanka Pruhova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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conditions such as brain tumors, trauma, infection or irradiation, and congenital forms of CPHD with a presumed genetic background ( 1 ). Pathogenic variants in more than 70 genes expressed during the prenatal development of the head, hypothalamus, and

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-24-0217
Volume/Issue:
Volume 13: 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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Introduction Improved diagnostics and treatment options have increased the life expectancy of children with genetic and/or congenital disorders ( 1 ). As a result, more and more patients with childhood-onset chronic conditions are making the

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
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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(%) <18 years ≥18 years MTG 1. Adrenal 268 6% 1470 15%  Congenital adrenal hyperplasia 181 68% 267 18%  Primary adrenal insufficiency 57 21% 287 20%  Cortisol-producing adenomas 12 4% 222 15

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
Ja Hye Kim Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Ji-Hee Yoon Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jieun Lee Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea

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Min Jae Kang Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, 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, University of Ulsan College of Medicine, Seoul, Korea

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

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Dodé C Dunkel L Dwyer AA Giacobini P Hardelin JP Juul A , Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment . Nature Reviews. Endocrinology 2015 11 547

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0413
Volume/Issue:
Volume 12: Issue 5
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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Introduction Heterozygous CHD7 mutations can lead to the development of CHARGE syndrome, characterized by a complex range of congenital malformations including coloboma, heart defects, atresia of choana, retarded growth and development

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Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-21-0522
Volume/Issue:
Volume 11: Issue 2
Open access
Kevin C J Yuen Departments of Neuroendocrinology and Neurosurgery, Barrow Neurological Institute, University of Arizona College of Medicine and Creighton School of Medicine, Phoenix, Arizona, United States

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Gudmundur Johannsson Department of Endocrinology, Sahlgrenska University Hospital and Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Ken K Y Ho The Garvan Institute of Medical Research and the Faculty of Medicine, University of New South Wales, Sydney, Australia

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Bradley S Miller Pediatric Endocrinology, University of Minnesota Medical School, M Health Fairview Masonic Children’s Hospital, Minneapolis, Minnesota, United States

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Ignacio Bergada Centro de Investigaciones Endocrinológicas "Dr César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina

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Alan D Rogol Pediatric Diabetes and Endocrinology, University of Virginia, Charlottesville, Virginia, United States

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). The exceptions when re-testing is generally not required are in patients with genetic/congenital defects, irreversible hypothalamic–pituitary lesions, and in those with panhypopituitarism and low serum insulin-like growth factor 1 (IGF1) levels ( 4

Article Type:
Review Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0504
Volume/Issue:
Volume 12: Issue 7
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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-reported). Patients with congenital or unknown causes of HD were excluded. In the situation that the diagnoses of patients were entered at the option ‘other diagnosis’ with insufficient information to be confident of the fact that these children fulfilled the

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