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Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

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Title: Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.
Authors: Cavadias I; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France. iphigenie.cavadias@aphp.fr.; Gynecology Department, Port-Royal University Hospital, AP-HP Centre, 75014, Paris, France. iphigenie.cavadias@aphp.fr.; Faculty of Medicine, Université Paris Cité, 75006, Paris, France. iphigenie.cavadias@aphp.fr.; Reference Center for Rare Gynecological Pathologies (PGR), Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France. iphigenie.cavadias@aphp.fr., Viaud M; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Reference Center for Rare Gynecological Pathologies (PGR), Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Falampin M; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Reference Center for Rare Gynecological Pathologies (PGR), Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Cheikhelard A; Reference Center for Rare Gynecological Pathologies (PGR), Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Paediatric Surgery and Urology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Gueniche K; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Reference Center for Rare Gynecological Pathologies (PGR), Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Ouallouche C; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Reference Center for Rare Gynecological Pathologies (PGR), Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Samara-Boustani D; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Reference Center for Rare Growth and Development Endocrine Diseases (CMERC), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Reference Center for Rare Diseases of Pituitary Origin (HYPO), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Bonnet D; M3C-Necker, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Bahi-Buisson N; Reference Center for Intellectual Disabilities of Rare Causes (DICR), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Quartier-Dit-Maire P; Reference Center for Inflammatory Rheumatic Diseases, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Hadj-Rabia S; Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Heidet L; Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Allali S; Reference Centre for Sickle Cell Disease, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., de Lonlay P; Reference Center for Inherited Metabolic Diseases in Children and Adults (MAMEA), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Amiel J; Reference Center for Developmental Anomalies and Malformative Syndromes of Île-de-France (Genetics), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Nabbout R; Reference Center for Rare Epilepsies (CRéER), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Moshous D; Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Cormier-Daire V; Reference Center for Constitutional Bone Diseases (MOC), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Picard A; Reference Center for Clefts and Facial Malformations (MAFACE), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Desguerre I; Reference Center for Neuromuscular Diseases, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Sermet-Gaudelus I; Reference Center for Cystic Fibrosis and Conditions Linked to a CFTR Abnormality, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Pinto G; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Reference Center for Prader-Willi Syndrome and Other Rare Forms of Obesity With Eating Disorders, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Bremond-Gignac D; Reference Center for Rare Eye Diseases (OPHTARA), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Ruemmele F; Reference Center for Rare Digestive Diseases (MaRDI), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Girard M; Reference Center for Biliary Atresia and Genetic Cholestases in Children (CRAVB-CG), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Abadie V; Reference Center for Pierre Robin Syndrome and Congenital Sucking-Swallowing Disorders (SPRATON), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., James S; Reference Center for Chiari and Vertebral and Spinal Malformations - Spinal Dysraphism (C-MAVEM), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Harroche A; Reference Center for Constitutional Hemorrhagic Diseases, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France., Polak M; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Faculty of Medicine, Université Paris Cité, 75006, Paris, France.; Reference Center for Rare Gynecological Pathologies (PGR), Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Cochin Institute, INSERM U1016, 75014, Paris, France.; IMAGINE Institute Affiliate, INSERM U1163, 75015, Paris, France., Da Costa S; Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.; Reference Center for Rare Gynecological Pathologies (PGR), Pediatric Endocrinology, Diabetology, Gynecology Department, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 11; Vol. 20 (1), pp. 117. Date of Electronic Publication: 2025 Mar 11.
Publication Type: Journal Article; Observational Study
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1750-1172
DOI:10.1186/s13023-025-03618-2