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Volha V Zhukouskaya
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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Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy
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Anya Rothenbuhler
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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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
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Annamaria Colao
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
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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IRCCS SDN, Naples, Italy
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Peter Kamenický
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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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
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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APHP, Department of Molecular Genetics, Pharmacogenetics and Hormonology, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
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Dominique Prié
Dominique Prié
Université Paris V, Faculté de Médecine, Paris, France
Hôpital Necker EnfantsMalades APHP, INSERM U1151, Paris, France
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Hôpital Necker EnfantsMalades APHP, INSERM U1151, Paris, France
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Christelle Audrain
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
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
Christèle Kyheng
APHP, Department of Adolescent Medicine, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
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Anne-Sophie Lambert
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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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
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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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
Lisette van Alewijk
Lisette van Alewijk
Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands
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Kirsten Davidse
Kirsten Davidse
Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands
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Karlijn Pellikaan
Karlijn Pellikaan
Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands
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Judith van Eck
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
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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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
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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Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands
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Sabine Hannema
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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Department of Paediatric Endocrinology, Leiden University Medical Centre, Leiden, the Netherlands
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Aart J van der Lely
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
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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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
Enora Le Roux
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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AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Unité d’Épidémiologie Clinique, Inserm, Paris, France
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Florence Menesguen
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
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
Marc Popelier
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Diabétologie, Paris, France
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Marine Halbron
Marine Halbron
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Diabétologie, Paris, France
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Pauline Faucher
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
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
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
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
Stephane Hatem
Institute of Cardiology and Nutrition, Paris, France
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Michel Polak
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
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
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
Isabelle Flechtner
Isabelle Flechtner
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Magali Viaud
Magali Viaud
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Dulanjalee Kariyawasam
Dulanjalee Kariyawasam
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Marie Perrissin-Fabert
Marie Perrissin-Fabert
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Maud Bidet
Maud Bidet
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Anne Bachelot
Anne Bachelot
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Philippe Touraine
Philippe Touraine
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Philippe Labrune
Philippe Labrune
Department of Pediatrics, APHP, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, Hopital Antoine Béclère and Paris Sud University, Clamart, France
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Pascale de Lonlay
Pascale de Lonlay
Reference Center of Inherited Metabolic Diseases, Université de Paris, Necker Enfants Malades, University Hospital, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Michel Polak
Michel Polak
Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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on the patients’ puberty onset, fertility and biological markers. Predictive factors are therefore difficult to define. The primary objective of this collaborative questionnaire survey by French Reference Centers for Rare Diseases was to collect
Heike Hoyer-Kuhn
Heike Hoyer-Kuhn
Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
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Angela Huebner
Angela Huebner
Department of Paediatrics, University Children’s Hospital Dresden, Dresden, Germany
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Anette Richter-Unruh
Anette Richter-Unruh
University Children’s Hospital Bochum, Bochum, Nordrhein-Westfalen, Germany
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Markus Bettendorf
Markus Bettendorf
University Children’s Hospital Heidelberg, Heidelberg, Germany
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Tilman Rohrer
Tilman Rohrer
University Children’s Hospital Homburg, Homburg, Germany
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Klaus Kapelari
Klaus Kapelari
University Children’s Hospital Innsbruck, Innsbruck, Austria
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Stefan Riedl
Stefan Riedl
Department of Pediatric, Medical University of Vienna, Vienna, Austria
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
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St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
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Klaus Mohnike
Klaus Mohnike
Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany
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Helmuth-Günther Dörr
Helmuth-Günther Dörr
University Children’s Hospital Erlangen, Erlangen, Germany
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Friedrich-Wilhelm Roehl
Friedrich-Wilhelm Roehl
Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany
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Katharina Fink
Katharina Fink
Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany
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Reinhard W Holl
Reinhard W Holl
Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany
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Joachim Woelfle
Joachim Woelfle
University Children’s Hospital Erlangen, Erlangen, Germany
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reports are send to all participating centers twice a year. These reports might be a useful tool for treatment improvement and standardization. CAH is one of approximately 5000–8000 known rare diseases that affect about 6% of the population. Standardized
