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Piera Rizzolo Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Valentina Silvestri Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Virginia Valentini Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Veronica Zelli Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Agostino Bucalo Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Ines Zanna Cancer Risk Factors and Lifestyle Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence, Italy

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Simonetta Bianchi Division of Pathological Anatomy, Department of Sciences of Health, University of Florence, Florence, Italy

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Maria Grazia Tibiletti Department of Pathology, ASST Settelaghi and Centro di Ricerca per lo Studio dei Tumori Eredo-Familiari, Università dell’Insubria, Varese, Italy

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Antonio Russo Section of Medical Oncology, Department of Surgical and Oncological and Oral Sciences, University of Palermo, Palermo, Italy

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Liliana Varesco IRCCS Ospedale Policlinico San Martino, Genoa, Italy

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Gianluca Tedaldi Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy

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Bernardo Bonanni Division of Cancer Prevention and Genetics IEO, European Institute of Oncology IRCCS, Milan, Italy

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Jacopo Azzollini Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy

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Siranoush Manoukian Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy

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Anna Coppa Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

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Giuseppe Giannini Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Laura Cortesi Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy

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Alessandra Viel Unit of Functional Onco-Genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy

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Marco Montagna Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV – IRCCS, Padua, Italy

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Paolo Peterlongo Genome Diagnostics Program, IFOM – The FIRC Institute of Molecular Oncology, Milan, Italy

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Paolo Radice Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy

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Domenico Palli Cancer Risk Factors and Lifestyle Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence, Italy

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Laura Ottini Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Introduction Male breast cancer (MBC) is a rare disease, representing about 1% of all breast cancers (BCs) and less than 1% of all cancers in men ( 1 ). Germline pathogenic variants in BC genes, particularly BRCA1 , BRCA2 and PALB2 genes

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Paweł Komarnicki Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland

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Paweł Gut Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland

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Jan Musiałkiewicz Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland

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Maja Cieślewicz Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland

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Adam Maciejewski Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland

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Prachi Patel Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland

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George Mastorakos Unit of Endocrinology, Diabetes Mellitus and Metabolism, Aretaieion University Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Marek Ruchała Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland

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study nor previous publications found any correlation between these variables ( 30 ). When discussing the results of the present study, several limitations should be considered. NETs are a rare disease with the incidence rate ranging from around 2 to 5

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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Stochholm K & Gravholt CH . Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXY and 47,XYY syndrome: a nationwide cohort study . Orphanet Journal of Rare Diseases 2019 14 16. ( https://doi.org/10.1186/s

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Estelle Bonnet Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France

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Mathias Winter Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France

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Delphine Mallet Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France

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Ingrid Plotton Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France

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Claire Bouvattier Centre Hospitalier Universitaire AP-HP, Hôpital Bicêtre, Service d’endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France

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Maryse Cartigny Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Unité d’Endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Laetiti Martinerie Centre Hospitalier Universitaire AP-HP, Hôpital Robert Debré, Service d’Endocrinologie pédiatrique Centre de Référence des Maladies Rares Endocriniennes de la Croissance et du Développement – CRMERC Université de Paris, Paris, France

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Michel Polak Centre Hospitalier Universitaire AP-HP, Hôpital universitaire Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement Inserm U1016, institut Imagine, Paris, France

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Anne Bachelot Centre Hospitalier Universitaire AP-HP, Hôpital Pitié Salpêtrière, Department of Endocrinology and Reproductive Medicine Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement Centre de Référence des pathologies gynécologiques rares IE3M, Paris, France

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Frédéric Huet Centre Hospitalier Universitaire Dijon-Bourgogne, Hôpital d’Enfants, Service de Pédiatrie Multidisciplinaire, Dijon, France

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Sabine Baron Centre Hospitalier universitaire de Nantes, Hôpital Mère-Enfant, Service de Pédiatrie, Nantes, France

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Muriel Houang Centre Hospitalier Universitaire AP-HP, Hôpital Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, Paris, France

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Sylvie Soskin Hôpitaux Universitaires de Strasbourg, CHU Hautepierre, Service de Pédiatrie 1, Strasbourg, France

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Anne Lienhardt Centre hospitalier universitaire Limoges, Hôpital de la Mère et de l’enfant, Service de Pédiatrie, Limoges, France

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Jérôme Bertherat Groupement Hospitalier Universitaire de Paris, AP-HP, Hôpital Cochin, Service d'Endocrinologie, Paris, France

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Cyril Amouroux Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France

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Aurore Bouty Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France

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Lise Duranteau AP-HP, Hôpital Bicêtre, Unité de gynécologie de l’adolescente Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France

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Rémi Besson Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de chirurgie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Alaa El Ghoneimi Centre Hospitalier Universitaire AP-HP Robert Debré, Service de Chirurgie Viscérale et Urologie pédiatrique Centre de Référence des Maladies Endocriniennes de la croissance et du développement – CRMERC Université de Paris, Paris, France

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Dinane Samara-Boustani Centre Hospitalier Universitaire AP-HP, Hôpital Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement, Paris, France

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François Becmeur Hospitaux Universitaires de Strasbourg, CHU Hautepierre, Service de chirurgie pédiatrique, Strasbourg, France

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Nicolas Kalfa Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Chirurgie Viscérale et Urologie Pédiatrique Centre National de Référence Maladies Rares du Développement Génital Constitutif Sud Institut Debrest de Santé Publique IDESP, UMR INSERM, Université de Montpellier, Montpellier, France

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Françoise Paris Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France

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François Medjkane Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de psychiatrie de l’enfant et de l’adolescent Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Aude Brac de la Perrière Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France

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Patricia Bretones Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France

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Hervé Lejeune Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de médecine de la reproduction, Bron, France
Université Claude Bernard, Lyon, France

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Marc Nicolino Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France

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Pierre Mouriquand Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France

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Daniela-Brindusa Gorduza Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France

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Claire-Lise Gay Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France

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, which aimed at centralizing and homogenizing the medical management of all patients with disorders of sex development. In 2006, it was structured as part of the first national plan for rare diseases (‘Plan National Maladies Rares’), which widened its

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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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Tirosh A Tirosh A Leibowitz-Amit R Eshet Y Greenberg G Merlinsky A Barhod E Steinberg-Silman Y Isolated autoimmune adrenocorticotropic hormone deficiency: from a rare disease to the dominant cause of adrenal insufficiency related to

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Cristina Lamas Department of Endocrinology and Nutrition, Complejo Hospitalario Universitario de Albacete, Albacete, Spain

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Elena Navarro Department of Endocrinology and Nutrition, Hospital Universitario Virgen del Rocío, Sevilla, Spain

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Anna Casterás Department of Endocrinology and Nutrition, Hospital Vall d’Hebron, Barcelona, Spain

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Paloma Portillo Department of Endocrinology and Nutrition, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain

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Victoria Alcázar Department of Endocrinology and Nutrition, Hospital Universitario Severo Ochoa, Leganés, Spain

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María Calatayud Department of Endocrinology and Nutrition, Hospital Univeristario Doce de Octubre, Madrid, Spain

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Cristina Álvarez-Escolá Department of Endocrinology and Nutrition, Hospital Universitario La Paz, Madrid, Spain

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Julia Sastre Department of Endocrinology and Nutrition, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Toledo, Spain

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Evangelina Boix Department of Endocrinology and Nutrition, Hospital General Universitario de Elche, Elche, Spain

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Lluis Forga Department of Endocrinology and Nutrition, Complejo Hospitalario de Navarra, Hospital de Navarra, Pamplona, Spain

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Almudena Vicente Department of Endocrinology and Nutrition, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Toledo, Spain

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Josep Oriola Biochemistry and Molecular Genetics Department, Hospital Clínic i Universitari de Barcelona, Barcelona, Spain

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Jordi Mesa Department of Endocrinology and Nutrition, Hospital Vall d’Hebron, Barcelona, Spain

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Nuria Valdés Department of Endocrinology and Nutrition, Hospital Universitario Central de Asturias, Oviedo, Spain

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pancreatitis 1 55 Discussion Clinical registries of rare diseases allow to collect information from a high number of patients gathering data from different hospitals in real practice. The aim of our project is to improve our knowledge

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Nicolai Preisler Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Pascal Laforêt Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France

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Karen Lindhardt Madsen Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Edith Husu Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Christoffer Rasmus Vissing Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Gitte Hedermann Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Henrik Galbo Department of Inflammation Research, Rigshospitalet, Copenhagen, Denmark

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Christopher Lindberg Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden

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John Vissing Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy . Orphanet Journal of Rare Diseases 2011 6 34 . ( doi:10.1186/1750-1172-6-34 ) 5 Preisler N Haller RG Vissing J

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Elena V Varlamov Department of Medicine (Endocrinology, Diabetes and Clinical Nutrition), Oregon Health & Science University, Portland, Oregon, USA
Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA

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Dan Alexandru Niculescu Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA

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Swechya Banskota Department of Medicine (Endocrinology, Diabetes and Clinical Nutrition), Oregon Health & Science University, Portland, Oregon, USA
Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA

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Simona Andreea Galoiu Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA

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Catalina Poiana Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA

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Maria Fleseriu Department of Medicine (Endocrinology, Diabetes and Clinical Nutrition), Oregon Health & Science University, Portland, Oregon, USA
Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA

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Introduction Acromegaly is a rare disease that is caused by excessive growth hormone (GH) secretion by a pituitary adenoma ( 1 , 2 , 3 ). The clinical picture of active acromegaly is characterized by a combination of symptoms, signs, and

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Sylvain Roumeau CHU de Clermont-Ferrand, Service d’Endocrinologie, Diabétologie et Maladies Métaboliques, Clermont-Ferrand, France
Université Clermont Auvergne, Faculté de Médecine, Clermont-Ferrand, France

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Joannice Thevenon CHU Clermont-Ferrand, Service d’Odontologie, Clermont-Ferrand, France

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Lemlih Ouchchane Université Clermont Auvergne, CNRS, ISIT, Clermont-Ferrand, France
CHU Clermont-Ferrand, Service de Biostatistiques, Clermont-Ferrand, France

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Salwan Maqdasy Université Clermont Auvergne, Faculté de Médecine, Clermont-Ferrand, France
CHU de Clermont-Ferrand, Service d’Endocrinologie, Diabétologie et Maladies Métaboliques, Clermont-Ferrand, France
Laboratoire GReD: UMR Université Clermont Auvergne-CNRS 6293, INSERM U1103, Clermont-Ferrand, France

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Marie Batisse-Lignier CHU de Clermont-Ferrand, Service d’Endocrinologie, Diabétologie et Maladies Métaboliques, Clermont-Ferrand, France
Laboratoire GReD: UMR Université Clermont Auvergne-CNRS 6293, INSERM U1103, Clermont-Ferrand, France

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Christian Duale Université Clermont Auvergne, Inserm, Neuro-Dol, Clermont-Ferrand, France
CHU Clermont-Ferrand, Inserm CIC 1405, Clermont-Ferrand, France

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Nathalie Pham Dang Université Clermont Auvergne, Faculté de Médecine, Clermont-Ferrand, France
Université Clermont Auvergne, Inserm, Neuro-Dol, Clermont-Ferrand, France
CHU de Clermont-Ferrand, Service de chirurgie maxillo-faciale, Clermont-Ferrand, France

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Philippe Caron CHU Larrey-Rangueil, Service Endocrinologie et Maladies Métaboliques, Pôle Cardio-Vasculaire et Métabolique, Toulouse, France

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Igor Tauveron CHU de Clermont-Ferrand, Service d’Endocrinologie, Diabétologie et Maladies Métaboliques, Clermont-Ferrand, France
Université Clermont Auvergne, Faculté de Médecine, Clermont-Ferrand, France
Laboratoire GReD: UMR Université Clermont Auvergne-CNRS 6293, INSERM U1103, Clermont-Ferrand, France

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Laurent Devoize CHU Clermont-Ferrand, Service d’Odontologie, Clermont-Ferrand, France
Université Clermont Auvergne, Inserm, Neuro-Dol, Clermont-Ferrand, France
Université Clermont Auvergne, Faculté de Chirurgie Dentaire, Clermont-Ferrand, France

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Journal of Rare Diseases 2008 3 17 . ( https://doi.org/10.1186/1750-1172-3-17 ) 2 Vilar L Vilar CF Lyra R Lyra R Naves LA . Acromegaly: clinical features at diagnosis . Pituitary 2017 20 22 – 32 . ( https://doi.org/10.1007/s11102

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Agata Hanna Bryk-Wiązania Chair and Department of Endocrinology, Jagiellonian University Medical College, Krakow, Poland
Department of Endocrinology, Oncological Endocrinology and Nuclear Medicine, University Hospital, Krakow, Poland

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Mari Minasyan Department of Endocrinology, Oncological Endocrinology and Nuclear Medicine, University Hospital, Krakow, Poland

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Alicja Hubalewska-Dydejczyk Chair and Department of Endocrinology, Jagiellonian University Medical College, Krakow, Poland
Department of Endocrinology, Oncological Endocrinology and Nuclear Medicine, University Hospital, Krakow, Poland

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Aleksandra Gilis-Januszewska Chair and Department of Endocrinology, Jagiellonian University Medical College, Krakow, Poland
Department of Endocrinology, Oncological Endocrinology and Nuclear Medicine, University Hospital, Krakow, Poland

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Introduction Cushing’s syndrome (CS) is a rare disease with an incidence ranging from 0.7 to 2.4 per million people per year ( 1 ). In contrast, venous thromboembolism (VTE), which includes pulmonary embolism (PE) and deep-vein thrombosis (DVT

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