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Dirk-Jan van Beek Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands

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Rachel S van Leeuwaarde Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands

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Carolina R C Pieterman Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands

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Menno R Vriens Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands

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Gerlof D Valk Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
Parelsnoer Institute, Utrecht, The Netherlands

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the DutchMEN Study Group
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Introduction Rare diseases that affect less than one in 2000 people, pose challenges in supporting patients and physicians with evidence-based guidelines of sufficient quality ( 1 ). Medical decision making becomes challenging when guidelines

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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

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Shota Dzemaili University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland

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Jitske Tiemensma University of California Merced, Psychological Science, Merced, CA, USA

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Richard Quinton Department of Endocrinology, Institute for Human Genetics, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, United Kingdom

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Nelly Pitteloud Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

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Diane Morin University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland
Faculty of Nursing Science, Laval University, Québec City, Canada

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Andrew A Dwyer University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland
Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

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hypogonadotropic cause of infertility (TS) to those with a hypogonadotropic etiology (CHH). Notably, conducting research in rare disease patients is challenged by the fact that these patients are dispersed and difficult to reach. Therefore, the purpose of this

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E K White Division of Endocrinology and Centre for Endocrine Tumors, Department of Medicine, Leiden University Medical Centre, Leiden, The Netherlands
Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands

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I V Wagner Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, Amsterdam, The Netherlands

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C van Beuzekom Division of Endocrinology and Centre for Endocrine Tumors, Department of Medicine, Leiden University Medical Centre, Leiden, The Netherlands
Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands

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V Iotova Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany

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S F Ahmed Office for Rare Conditions, University of Glasgow, Glasgow, UK
Department of Paediatrics, UMHAT ‘Sveta Marina’ Varna, Medical University of Varna, Varna, Bulgaria

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O Hiort Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, Amsterdam, The Netherlands

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A M Pereira Faculty of Medicine Division 2, Internal Medicine Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands

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pandemic might have influenced the CPMS usage. On the one hand, clinicians were facing more work in hospitals with outpatients and COVID-19 patients and understandably did not have sufficient time to spend on individual patient cases with rare diseases

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Susan M Webb IIB-Sant Pau, Research Center for Pituitary Diseases, Barcelona, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain
Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain

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Jette Kristensen ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark

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Anna Nordenström Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden

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Diana Vitali ePAG & Chair SOD ITALIA - Italian Patients Organization for Septo Optic Dysplasia and other Neuroendocrine Conditions, Rome, Italy

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Vincent Amodru Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France

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Lenja Katharina Wiehe EURORDIS - Rare Diseases Europe, Paris, France

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Matt Bolz-Johnson EURORDIS - Rare Diseases Europe, Paris, France

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journeys’ (PJ) are instruments developed to collect information on patients’ experiences in many areas of medicine, including rare diseases ( 8 ). They are simple ways to make visible the needs of a community of patients that can complete the view of the

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Volha V Zhukouskaya APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy

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Anya Rothenbuhler APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France

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Annamaria Colao Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy

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Carolina Di Somma Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy
IRCCS SDN, Naples, Italy

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Peter Kamenický APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France

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Séverine Trabado Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France
APHP, Department of Molecular Genetics, Pharmacogenetics and Hormonology, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France

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Dominique Prié Université Paris V, Faculté de Médecine, Paris, France
Hôpital Necker EnfantsMalades APHP, INSERM U1151, Paris, France

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Christelle Audrain APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France

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Anna Barosi APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France

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Christèle Kyheng APHP, Department of Adolescent Medicine, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France

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Anne-Sophie Lambert APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Adolescent Medicine, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France

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Agnès Linglart APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, FilièreOSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France

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Introduction X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked ( PHEX ) gene and characterized by chronic hypophosphatemia. Impaired function of PHEX

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Lisette van Alewijk Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Kirsten Davidse Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Karlijn Pellikaan Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Judith van Eck Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anita C S Hokken-Koelega Department of Paediatrics, Subdivision of 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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Theo C J Sas Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands

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Sabine Hannema Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Department of Paediatric Endocrinology, Leiden University Medical Centre, Leiden, the Netherlands

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Aart J van der Lely Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Laura C G de Graaff Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands

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:400,000 (incidence in 0–20 year olds) (55) 1  Silver–Russell syndrome 1:30,000–100,000 (prevalence) (56) 1 a Retrieved from www.orpha.net (portal for rare diseases and orphan drugs); b retrieved from medical records. Table 2

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Enora Le Roux Université de Paris, ECEVE UMR 1123, Inserm, Paris, France
AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Unité d’Épidémiologie Clinique, Inserm, Paris, France

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Florence Menesguen AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Isabelle Tejedor AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Marc Popelier AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Diabétologie, Paris, France

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Marine Halbron AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Diabétologie, Paris, France

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Pauline Faucher AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Nutrition, Centre du Syndrome de Prader-Willi et Autres Obésités Rares, Paris, France

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Sabine Malivoir AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Graziella Pinto AP-HP.Université de Paris Centre, Hôpital Universitaire Necker Enfants Malades, Département d’Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Paris, France; Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Juliane Léger AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Service d’Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes de la Croissance et du Développement, Paris, France

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Stephane Hatem Institute of Cardiology and Nutrition, Paris, France

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Michel Polak AP-HP.Université de Paris Centre, Hôpital Universitaire Necker Enfants Malades, Département d’Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Paris, France; Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Christine Poitou AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Nutrition, Centre du Syndrome de Prader-Willi et Autres Obésités Rares, Paris, France

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Philippe Touraine AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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18 (4)  Non congenital hypopituitarism 17 (3)  Craniopharyngioma 16 (3)  Familial dyslipidemia 8 (2)  Other conditions (rare diseases, pituitary benign tumour, patients at risk following disease or treatment) 70 (14

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Tristan Avril Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Quentin Hennocq Datascience platform, Imagine Institute, Université Paris Cité, Paris, France

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Anne-Sophie Lambert Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Juliane Leger Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France

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Dominique Simon Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France

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Laetitia Martinerie Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France

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Claire Bouvattier Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France

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-Gauillard H Cartes A Bouligand J Young J . Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life . Orphanet Journal of Rare Diseases 2015 10 71. ( https://doi.org/10.1186/s13023-015-0287-9 ) 8 Kohva E Huopio H Hietamäki J

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Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available concerning adult testicular function in such patients. We had the opportunity to study gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. He presented at birth a neonatal salt-wasting syndrome. He had a micropenis, a perineal hypospadias and two intrascrotal testes. HSD3B2 gene sequencing revealed a 687del27 homozygous mutation. The patient achieved normal puberty at the age of 15 years. Transition from the paediatric department occurred at the age of 19 years. His hormonal profile under hydrocortisone and fludrocortisone treatments revealed normal serum levels of 17OH-pregnenolone, as well as SDHEA, ACTH, total testosterone, inhibin B and AMH. Pelvic ultrasound identified two scrotal testes of 21 mL each, without any testicular adrenal rest tumours. His adult spermatic characteristics were normal, according to WHO 2010 criteria, with a sperm concentration of 57.6 million/mL (N > 15), 21% of typical forms (N > 4%). Sperm vitality was subnormal (41%; N > 58%). This patient, in contrast to previous reports, presents subnormal sperm parameters and therefore potential male fertility in a 24-years-old patient with severe 3b-HSD deficiency. This case should improve counselling about fertility of male patients carrying HSD3B2 mutation.

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