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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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, 15 ), cranial magnetic resonance imaging (MRI) were performed at the time points of CP diagnosis and prospectively at 3-months intervals during the first year of follow-up after CP diagnosis. A neuroradiologist (BB), blinded for clinical details

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A Bergougnoux Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France

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L Gaspari Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France

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M Soleirol Département de Pediatrie, CHU Nîmes, France, Université de Montpellier Faculté de Médecine Montpellier-Nîmes, Montpellier, France

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N Servant Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France

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S Soskin Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France

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S Rossignol Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France

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K Wagner-Mahler Département de Pédiatrie, CHU Nice, Hôpitaux Pédiatriques de Nice CHU-Lenval, Nice, France

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J Bertherat Department of Endocrinology, French Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Université Paris Cité, Institut Cochin, Assitance Publique-Hôpitaux de Paris, Paris, France

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C Sultan Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France

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N Kalfa Department of Pediatric Urological Surgery, French Reference Center for abnormalities of Genital Development (DevGen), CHU Lapeyronie, Montpellier University, Montpellier, France

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F Paris Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France

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46,XY. MRI showed the presence of a Müllerian duct remnant of 27 mm × 15 mm not visible on ultrasonography. Surgery was performed to remove the gonads due to testicular dysgenesis highlighted by the hormonal workup. The anatomopathological study

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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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) Phenotype Olfaction Basal hormone levels Brain MRI Non-reproductive phenotype ANOS1 mutation 1 1 19.5 KS Anosmia (self-reported) LH 0.7 mIU/mL, FSH 0.92 mIU/mL, testosterone 0.05 ng/mL Absence of olfactory bulbs Hypoplastic

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Caiyan Mo Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Tao Tong Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Ying Guo Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Zheng Li Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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Liyong Zhong Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China

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levels; and pituitary adenoma diagnosed by contrast-enhanced magnetic resonance imaging (MRI) and confirmed by postoperative pathology as GHPA. The diagnostic criteria of GD included: symptoms and signs of hypermetabolism due to thyrotoxicosis, elevated

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Marilena Nakaguma Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Fernanda A Correa Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Lucas S Santana Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Anna F F Benedetti Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Ricardo V Perez Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo, Instituto de Assistência Médica ao Servidor Público Estadual (HSPE-IAMSPE), São Paulo, Brasil

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Martha K P Huayllas Hospital de Transplantes Euryclides de Jesus Zerbini, São Paulo, Brasil

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Mirta B Miras Hospital de Niños Santísima Trinidad, Cordoba, Argentina

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Mariana F A Funari Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Antonio M Lerario Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Berenice B Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Luciani R S Carvalho Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Alexander A L Jorge Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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characteristics of patients with pathogenic variants. Patients Gene Sex Delivery Family history Height SDS at first visit Hormonal deficiency MRI Associated complex phenotype 1 a GHRHR F Caesarean section No −5

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C E Higham Department of Endocrinology, Christie Hospital NHS Foundation Trust, Manchester, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK

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A Olsson-Brown The Clatterbridge Cancer Centre, Bebbington, Wirral, UK
The University of Liverpool, Brownlow Hill, Liverpool, UK

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P Carroll Department of Endocrinology, Guy’s & St. Thomas’ NHS Foundation Trust, London, UK

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T Cooksley Department of Acute Medicine, UHSM and Christie Hospital NHS Foundation Trust, Manchester, UK

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J Larkin Skin Unit, Royal Marsden Hospital, London, UK

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P Lorigan Department of Medical Oncology, Christie Hospital NHS Foundation Trust, Manchester, UK

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D Morganstein Department of Endocrinology, Chelsea and Westminster Hospital, London, UK

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P J Trainer Department of Endocrinology, Christie Hospital NHS Foundation Trust, Manchester, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK

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the Society for Endocrinology Clinical Committee The Society for Endocrinology, Starling House, 1600 Bristol Parkway North, Bristol, UK

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. If hypophysitis is suspected clinically then a contrast-enhanced MRI pituitary scan should be performed as soon as possible. Headache, diplopia and cranial nerve palsies (CTCAE grade 3–4) should trigger an urgent MRI scan of the pituitary; to

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Roland Därr Department of Cardiology and Angiology I, Heart Center Freiburg University, Faculty of Medicine, University of Freiburg, Freiburg, Germany
Department of Medicine IV, Medical Center – University of Freiburg

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Jonas Kater Department of Medicine IV, Medical Center – University of Freiburg

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Peggy Sekula Institute of Genetic Epidemiology, University Medical Center Freiburg, Freiburg, Germany

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Birke Bausch Department of Medicine II, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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Tobias Krauss Department of Radiology, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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Christoph Bode Department of Cardiology and Angiology I, Heart Center Freiburg University, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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Gerd Walz Department of Medicine IV, Medical Center – University of Freiburg

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Hartmut P Neumann Section for Preventive Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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Stefan Zschiedrich Department of Medicine IV, Medical Center – University of Freiburg

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transformation is remarkably low in VHL- mutated PHEO/PGL usually not exceeding 5% in published series compared with 30–60% of most other PHEO/PGL with cluster-1 identity ( 3 , 6 , 16 , 17 , 18 , 19 , 20 ). The advent of high-resolution CT and MRI and

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Henry Zelada Division of Endocrinology, Diabetes and Metabolism, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA

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M Citlalli Perez-Guzman Internal Medicine Division of Endocrinology, Centro Médico ABC, Mexico City, Mexico

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Daniel R Chernavvsky Center for Diabetes Technology, University of Virginia, Charlottesville, Virginia, USA

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Rodolfo J Galindo Division of Endocrinology, Diabetes and Metabolism, University of Miami Miller School of Medicine. Miami, Florida, USA

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mmHg - Hyperthermia - Hypothermia - Volume depletion - Hyperglycemic Emergencies - In ICU settings - CT, radiotherapy, electrocautery use: Individualized decision - MRI: Remove CGM - May be considered to guide use of POC or ABG - Hold if hypotension

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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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provocative agents and diagnostic thresholds that are used in adults. A substantial proportion of patients (25–100%) with CO-GHD, especially children with isolated GHD and normal or small pituitary on MRI, have normalization of GH secretion following re

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Bliss Anderson Department of Endocrinology, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK

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Daniel L Morganstein Department of Endocrinology, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK

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) Headache, fatigue, weakness nausea, weight loss, temperature intolerance, arthralgia Pituitary hormone profile, sodium level, visual fields Severe headache, hyponatraemia, hypopituitarism or pituitary enlargement seen on MRI (18, 19, 20, 21, 22) High

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