Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40–50%) and the 45,X/46,XX mosaic karyotype (15–25%)....

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Main Authors: Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-022-02423-5
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author Elodie Fiot
Bertille Alauze
Bruno Donadille
Dinane Samara-Boustani
Muriel Houang
Gianpaolo De Filippo
Anne Bachelot
Clemence Delcour
Constance Beyler
Emilie Bois
Emmanuelle Bourrat
Emmanuel Bui Quoc
Nathalie Bourcigaux
Catherine Chaussain
Ariel Cohen
Martine Cohen-Solal
Sabrina Da Costa
Claire Dossier
Stephane Ederhy
Monique Elmaleh
Laurence Iserin
Hélène Lengliné
Armelle Poujol-Robert
Dominique Roulot
Jerome Viala
Frederique Albarel
Elise Bismuth
Valérie Bernard
Claire Bouvattier
Aude Brac
Patricia Bretones
Nathalie Chabbert-Buffet
Philippe Chanson
Regis Coutant
Marguerite de Warren
Béatrice Demaret
Lise Duranteau
Florence Eustache
Lydie Gautheret
Georges Gelwane
Claire Gourbesville
Mickaël Grynberg
Karinne Gueniche
Carina Jorgensen
Veronique Kerlan
Charlotte Lebrun
Christine Lefevre
Françoise Lorenzini
Sylvie Manouvrier
Catherine Pienkowski
Rachel Reynaud
Yves Reznik
Jean-Pierre Siffroi
Anne-Claude Tabet
Maithé Tauber
Vanessa Vautier
Igor Tauveron
Sebastien Wambre
Delphine Zenaty
Irène Netchine
Michel Polak
Philippe Touraine
Jean-Claude Carel
Sophie Christin-Maitre
Juliane Léger
author_facet Elodie Fiot
Bertille Alauze
Bruno Donadille
Dinane Samara-Boustani
Muriel Houang
Gianpaolo De Filippo
Anne Bachelot
Clemence Delcour
Constance Beyler
Emilie Bois
Emmanuelle Bourrat
Emmanuel Bui Quoc
Nathalie Bourcigaux
Catherine Chaussain
Ariel Cohen
Martine Cohen-Solal
Sabrina Da Costa
Claire Dossier
Stephane Ederhy
Monique Elmaleh
Laurence Iserin
Hélène Lengliné
Armelle Poujol-Robert
Dominique Roulot
Jerome Viala
Frederique Albarel
Elise Bismuth
Valérie Bernard
Claire Bouvattier
Aude Brac
Patricia Bretones
Nathalie Chabbert-Buffet
Philippe Chanson
Regis Coutant
Marguerite de Warren
Béatrice Demaret
Lise Duranteau
Florence Eustache
Lydie Gautheret
Georges Gelwane
Claire Gourbesville
Mickaël Grynberg
Karinne Gueniche
Carina Jorgensen
Veronique Kerlan
Charlotte Lebrun
Christine Lefevre
Françoise Lorenzini
Sylvie Manouvrier
Catherine Pienkowski
Rachel Reynaud
Yves Reznik
Jean-Pierre Siffroi
Anne-Claude Tabet
Maithé Tauber
Vanessa Vautier
Igor Tauveron
Sebastien Wambre
Delphine Zenaty
Irène Netchine
Michel Polak
Philippe Touraine
Jean-Claude Carel
Sophie Christin-Maitre
Juliane Léger
author_sort Elodie Fiot
collection DOAJ
description Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40–50%) and the 45,X/46,XX mosaic karyotype (15–25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.
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spelling doaj.art-47d7e0d1bd19414b82a3ff48728cebb12022-12-22T00:41:57ZengBMCOrphanet Journal of Rare Diseases1750-11722022-07-0117S113910.1186/s13023-022-02423-5Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)Elodie Fiot0Bertille Alauze1Bruno Donadille2Dinane Samara-Boustani3Muriel Houang4Gianpaolo De Filippo5Anne Bachelot6Clemence Delcour7Constance Beyler8Emilie Bois9Emmanuelle Bourrat10Emmanuel Bui Quoc11Nathalie Bourcigaux12Catherine Chaussain13Ariel Cohen14Martine Cohen-Solal15Sabrina Da Costa16Claire Dossier17Stephane Ederhy18Monique Elmaleh19Laurence Iserin20Hélène Lengliné21Armelle Poujol-Robert22Dominique Roulot23Jerome Viala24Frederique Albarel25Elise Bismuth26Valérie Bernard27Claire Bouvattier28Aude Brac29Patricia Bretones30Nathalie Chabbert-Buffet31Philippe Chanson32Regis Coutant33Marguerite de Warren34Béatrice Demaret35Lise Duranteau36Florence Eustache37Lydie Gautheret38Georges Gelwane39Claire Gourbesville40Mickaël Grynberg41Karinne Gueniche42Carina Jorgensen43Veronique Kerlan44Charlotte Lebrun45Christine Lefevre46Françoise Lorenzini47Sylvie Manouvrier48Catherine Pienkowski49Rachel Reynaud50Yves Reznik51Jean-Pierre Siffroi52Anne-Claude Tabet53Maithé Tauber54Vanessa Vautier55Igor Tauveron56Sebastien Wambre57Delphine Zenaty58Irène Netchine59Michel Polak60Philippe Touraine61Jean-Claude Carel62Sophie Christin-Maitre63Juliane Léger64Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalPediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalDepartment of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine HospitalPediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University HospitalExplorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau HospitalPediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalEndocrinology and Reproductive Medicine Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Pitié Salpétrière University HospitalDepartment of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalCardiopaediatric Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalPediatric Otorhinolaryngology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalDermatology Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalOphthalmology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalDepartment of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine HospitalOdontology Department, Assistance Publique-Hôpitaux de Paris, University Hospitals Charles Foix, PNVS, and Henri MondorDepartment of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine HospitalDepartment of Rheumatology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Lariboisière HospitalReference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University HospitalDepartment of Paediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalDepartment of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine HospitalDepartment of Radiology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalAdult Congenital Heart Disease Unit, Cardiology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Georges Pompidou University HospitalDepartment of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalHepatology Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine HospitalHepatology Department, Assistance Publique-Hopitaux de Paris, Université Sorbonne Paris Nord, Avicenne HospitalDepartment of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalDepartment of Endocrinology, Assistance Publique-Hôpitaux de Marseille. Hospital La ConceptionDepartment of Pediatric Endocrinology and Diabetology, Competence Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalCHU Pellegrin, Department of Gynecological Surgery, Medical Gynecology and Reproductive Medicine, Centre Aliénor d’aquitaine, Bordeaux University HospitalsPaediatric Endocrinology Department, Reference Center for Rare Genital Development Disorders, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud UniversityDepartment of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital GroupDepartment of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital GroupGynecology-Obstetrics and Reproductive Medicine Department, Assistance Publique-Hôpitaux de Paris, Tenon University HospitalDepartment of Endocrinology and Reproductive Diseases, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud UniversityDepartment of Pediatric Endocrinology and Diabetology and Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, Angers University HospitalAGAT, French Turner Syndrome Association (AGAT; Association Des Groupes Amitié Turner)Grandir Association (French Growth Disorders Association)Adolescent and Young Adult Gynecology Unit, Reference Center for Rare Genital Development Disorders, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud UniversityReproductive Biology Department, Assistance Publique-Hôpitaux de Paris, Jean Verdier University HospitalPediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalPediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalDepartment of Endocrinology and Metabolic Diseases, Caen University HospitalDepartment of Reproductive Medicine and Fertility Preservation, Assistance Publique-Hôpitaux de Paris, Antoine Béclère University HospitalReference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University HospitalEndocrinology and Metabolism Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine HospitalEndocrinology and Metabolism Department, Brest University Hospital CentrePediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalPediatric Endocrinology, Lille University Jeanne de Flandre HospitalDepartment of Endocrinology, Toulouse University Paule Viguier HospitalClinical Genetics Department, DEV GEN Genital Development Reference Center, Lille University Jeanne de Flandre HospitalGenetics and Medical Gynecology Department, Reference Center for Rare Gynecological Pathologies, Toulouse University Hospitals - Hôpital Des Enfants, Pediatrics - EndocrinologyDepartment of Multidisciplinary Pediatrics, Reference Center for Pituitary Rare Diseases Aix Marseille University, Assistance Publique-Hôpitaux de Marseille, Hôpital de La Timone EnfantsDepartment of Endocrinology and Metabolic Diseases, Caen University HospitalGenetics and Embryology Department, Sorbonne Université; INSERM UMRS-933, Assistance Publique-Hôpitaux de Paris, Hôpital d’Enfants Armand-TrousseauGenetics Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalGenetics and Medical Gynecology Department, Toulouse University Hospital - Hôpital Des Enfants, Pediatrics - EndocrinologyPediatric Diabetology Department, Bordeaux University HospitalsClermont-Ferrand University Hospital, Endocrinology Department, Clermont Auvergne UniversityFrench Turner Syndrome Association (Turner Et Vous Association)Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalExplorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau HospitalPediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University HospitalEndocrinology and Reproductive Medicine Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Pitié Salpétrière University HospitalPediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalDepartment of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine HospitalPediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University HospitalAbstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40–50%) and the 45,X/46,XX mosaic karyotype (15–25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.https://doi.org/10.1186/s13023-022-02423-5Turner’s syndromeChildhoodAdulthoodDiagnosisRecommendationManagement
spellingShingle Elodie Fiot
Bertille Alauze
Bruno Donadille
Dinane Samara-Boustani
Muriel Houang
Gianpaolo De Filippo
Anne Bachelot
Clemence Delcour
Constance Beyler
Emilie Bois
Emmanuelle Bourrat
Emmanuel Bui Quoc
Nathalie Bourcigaux
Catherine Chaussain
Ariel Cohen
Martine Cohen-Solal
Sabrina Da Costa
Claire Dossier
Stephane Ederhy
Monique Elmaleh
Laurence Iserin
Hélène Lengliné
Armelle Poujol-Robert
Dominique Roulot
Jerome Viala
Frederique Albarel
Elise Bismuth
Valérie Bernard
Claire Bouvattier
Aude Brac
Patricia Bretones
Nathalie Chabbert-Buffet
Philippe Chanson
Regis Coutant
Marguerite de Warren
Béatrice Demaret
Lise Duranteau
Florence Eustache
Lydie Gautheret
Georges Gelwane
Claire Gourbesville
Mickaël Grynberg
Karinne Gueniche
Carina Jorgensen
Veronique Kerlan
Charlotte Lebrun
Christine Lefevre
Françoise Lorenzini
Sylvie Manouvrier
Catherine Pienkowski
Rachel Reynaud
Yves Reznik
Jean-Pierre Siffroi
Anne-Claude Tabet
Maithé Tauber
Vanessa Vautier
Igor Tauveron
Sebastien Wambre
Delphine Zenaty
Irène Netchine
Michel Polak
Philippe Touraine
Jean-Claude Carel
Sophie Christin-Maitre
Juliane Léger
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
Orphanet Journal of Rare Diseases
Turner’s syndrome
Childhood
Adulthood
Diagnosis
Recommendation
Management
title Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
title_full Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
title_fullStr Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
title_full_unstemmed Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
title_short Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
title_sort turner syndrome french national diagnosis and care protocol ndcp national diagnosis and care protocol
topic Turner’s syndrome
Childhood
Adulthood
Diagnosis
Recommendation
Management
url https://doi.org/10.1186/s13023-022-02423-5
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