View in EDS HTML Full Text PDF Full Text

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

Saved in:
Bibliographic Details
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40069734
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Cavadias+I%22">Cavadias I</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Viaud+M%22">Viaud M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Falampin+M%22">Falampin M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cheikhelard+A%22">Cheikhelard A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gueniche+K%22">Gueniche K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ouallouche+C%22">Ouallouche C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Samara-Boustani+D%22">Samara-Boustani D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bonnet+D%22">Bonnet D</searchLink>; M3C-Necker, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bahi-Buisson+N%22">Bahi-Buisson N</searchLink>; Reference Center for Intellectual Disabilities of Rare Causes (DICR), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Quartier-Dit-Maire+P%22">Quartier-Dit-Maire P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hadj-Rabia+S%22">Hadj-Rabia S</searchLink>; Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Heidet+L%22">Heidet L</searchLink>; Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Allali+S%22">Allali S</searchLink>; Reference Centre for Sickle Cell Disease, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Lonlay+P%22">de Lonlay P</searchLink>; Reference Center for Inherited Metabolic Diseases in Children and Adults (MAMEA), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Amiel+J%22">Amiel J</searchLink>; Reference Center for Developmental Anomalies and Malformative Syndromes of Île-de-France (Genetics), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nabbout+R%22">Nabbout R</searchLink>; Reference Center for Rare Epilepsies (CRéER), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Moshous+D%22">Moshous D</searchLink>; Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Reference Center for Constitutional Bone Diseases (MOC), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Picard+A%22">Picard A</searchLink>; Reference Center for Clefts and Facial Malformations (MAFACE), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Desguerre+I%22">Desguerre I</searchLink>; Reference Center for Neuromuscular Diseases, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Sermet-Gaudelus+I%22">Sermet-Gaudelus I</searchLink>; Reference Center for Cystic Fibrosis and Conditions Linked to a CFTR Abnormality, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pinto+G%22">Pinto G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bremond-Gignac+D%22">Bremond-Gignac D</searchLink>; Reference Center for Rare Eye Diseases (OPHTARA), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ruemmele+F%22">Ruemmele F</searchLink>; Reference Center for Rare Digestive Diseases (MaRDI), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Girard+M%22">Girard M</searchLink>; Reference Center for Biliary Atresia and Genetic Cholestases in Children (CRAVB-CG), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Abadie+V%22">Abadie V</searchLink>; Reference Center for Pierre Robin Syndrome and Congenital Sucking-Swallowing Disorders (SPRATON), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22James+S%22">James S</searchLink>; Reference Center for Chiari and Vertebral and Spinal Malformations - Spinal Dysraphism (C-MAVEM), Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Harroche+A%22">Harroche A</searchLink>; Reference Center for Constitutional Hemorrhagic Diseases, Necker-Enfants Malades University Hospital, AP-HP Centre, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Polak+M%22">Polak M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Da+Costa+S%22">Da Costa S</searchLink>; 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.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 Mar 11; Vol. 20 (1), pp. 117. <i>Date of Electronic Publication: </i>2025 Mar 11.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Observational Study
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40069734
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-025-03618-2
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 117
    Titles:
      – TitleFull: Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Cavadias I
      – PersonEntity:
          Name:
            NameFull: Viaud M
      – PersonEntity:
          Name:
            NameFull: Falampin M
      – PersonEntity:
          Name:
            NameFull: Cheikhelard A
      – PersonEntity:
          Name:
            NameFull: Gueniche K
      – PersonEntity:
          Name:
            NameFull: Ouallouche C
      – PersonEntity:
          Name:
            NameFull: Samara-Boustani D
      – PersonEntity:
          Name:
            NameFull: Bonnet D
      – PersonEntity:
          Name:
            NameFull: Bahi-Buisson N
      – PersonEntity:
          Name:
            NameFull: Quartier-Dit-Maire P
      – PersonEntity:
          Name:
            NameFull: Hadj-Rabia S
      – PersonEntity:
          Name:
            NameFull: Heidet L
      – PersonEntity:
          Name:
            NameFull: Allali S
      – PersonEntity:
          Name:
            NameFull: de Lonlay P
      – PersonEntity:
          Name:
            NameFull: Amiel J
      – PersonEntity:
          Name:
            NameFull: Nabbout R
      – PersonEntity:
          Name:
            NameFull: Moshous D
      – PersonEntity:
          Name:
            NameFull: Cormier-Daire V
      – PersonEntity:
          Name:
            NameFull: Picard A
      – PersonEntity:
          Name:
            NameFull: Desguerre I
      – PersonEntity:
          Name:
            NameFull: Sermet-Gaudelus I
      – PersonEntity:
          Name:
            NameFull: Pinto G
      – PersonEntity:
          Name:
            NameFull: Bremond-Gignac D
      – PersonEntity:
          Name:
            NameFull: Ruemmele F
      – PersonEntity:
          Name:
            NameFull: Girard M
      – PersonEntity:
          Name:
            NameFull: Abadie V
      – PersonEntity:
          Name:
            NameFull: James S
      – PersonEntity:
          Name:
            NameFull: Harroche A
      – PersonEntity:
          Name:
            NameFull: Polak M
      – PersonEntity:
          Name:
            NameFull: Da Costa S
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 11
              M: 03
              Text: 2025 Mar 11
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1750-1172
          Numbering:
            – Type: volume
              Value: 20
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet journal of rare diseases
              Type: main
ResultId 1