Orphanet Journal of Rare Diseases (Jul 2022)
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
- 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
Affiliations
- Elodie Fiot
- 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 Hospital
- Bertille Alauze
- 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 Hospital
- Bruno Donadille
- Department of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital
- Dinane Samara-Boustani
- Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital
- Muriel Houang
- Explorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau Hospital
- Gianpaolo De Filippo
- 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 Hospital
- Anne Bachelot
- Endocrinology and Reproductive Medicine Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Pitié Salpétrière University Hospital
- Clemence Delcour
- Department of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Constance Beyler
- Cardiopaediatric Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Emilie Bois
- Pediatric Otorhinolaryngology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Emmanuelle Bourrat
- Dermatology Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Emmanuel Bui Quoc
- Ophthalmology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Nathalie Bourcigaux
- Department of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital
- Catherine Chaussain
- Odontology Department, Assistance Publique-Hôpitaux de Paris, University Hospitals Charles Foix, PNVS, and Henri Mondor
- Ariel Cohen
- Department of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital
- Martine Cohen-Solal
- Department of Rheumatology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Lariboisière Hospital
- Sabrina Da Costa
- Reference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital
- Claire Dossier
- Department of Paediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Stephane Ederhy
- Department of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital
- Monique Elmaleh
- Department of Radiology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Laurence Iserin
- Adult Congenital Heart Disease Unit, Cardiology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Georges Pompidou University Hospital
- Hélène Lengliné
- Department of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Armelle Poujol-Robert
- Hepatology Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital
- Dominique Roulot
- Hepatology Department, Assistance Publique-Hopitaux de Paris, Université Sorbonne Paris Nord, Avicenne Hospital
- Jerome Viala
- Department of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Frederique Albarel
- Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille. Hospital La Conception
- Elise Bismuth
- Department 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 Hospital
- Valérie Bernard
- CHU Pellegrin, Department of Gynecological Surgery, Medical Gynecology and Reproductive Medicine, Centre Aliénor d’aquitaine, Bordeaux University Hospitals
- Claire Bouvattier
- Paediatric Endocrinology Department, Reference Center for Rare Genital Development Disorders, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University
- Aude Brac
- Department of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital Group
- Patricia Bretones
- Department of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital Group
- Nathalie Chabbert-Buffet
- Gynecology-Obstetrics and Reproductive Medicine Department, Assistance Publique-Hôpitaux de Paris, Tenon University Hospital
- Philippe Chanson
- Department of Endocrinology and Reproductive Diseases, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University
- Regis Coutant
- Department of Pediatric Endocrinology and Diabetology and Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, Angers University Hospital
- Marguerite de Warren
- AGAT, French Turner Syndrome Association (AGAT; Association Des Groupes Amitié Turner)
- Béatrice Demaret
- Grandir Association (French Growth Disorders Association)
- Lise Duranteau
- Adolescent and Young Adult Gynecology Unit, Reference Center for Rare Genital Development Disorders, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University
- Florence Eustache
- Reproductive Biology Department, Assistance Publique-Hôpitaux de Paris, Jean Verdier University Hospital
- Lydie Gautheret
- 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 Hospital
- Georges Gelwane
- 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 Hospital
- Claire Gourbesville
- Department of Endocrinology and Metabolic Diseases, Caen University Hospital
- Mickaël Grynberg
- Department of Reproductive Medicine and Fertility Preservation, Assistance Publique-Hôpitaux de Paris, Antoine Béclère University Hospital
- Karinne Gueniche
- Reference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital
- Carina Jorgensen
- Endocrinology and Metabolism Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital
- Veronique Kerlan
- Endocrinology and Metabolism Department, Brest University Hospital Centre
- Charlotte Lebrun
- 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 Hospital
- Christine Lefevre
- Pediatric Endocrinology, Lille University Jeanne de Flandre Hospital
- Françoise Lorenzini
- Department of Endocrinology, Toulouse University Paule Viguier Hospital
- Sylvie Manouvrier
- Clinical Genetics Department, DEV GEN Genital Development Reference Center, Lille University Jeanne de Flandre Hospital
- Catherine Pienkowski
- Genetics and Medical Gynecology Department, Reference Center for Rare Gynecological Pathologies, Toulouse University Hospitals - Hôpital Des Enfants, Pediatrics - Endocrinology
- Rachel Reynaud
- Department of Multidisciplinary Pediatrics, Reference Center for Pituitary Rare Diseases Aix Marseille University, Assistance Publique-Hôpitaux de Marseille, Hôpital de La Timone Enfants
- Yves Reznik
- Department of Endocrinology and Metabolic Diseases, Caen University Hospital
- Jean-Pierre Siffroi
- Genetics and Embryology Department, Sorbonne Université; INSERM UMRS-933, Assistance Publique-Hôpitaux de Paris, Hôpital d’Enfants Armand-Trousseau
- Anne-Claude Tabet
- Genetics Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital
- Maithé Tauber
- Genetics and Medical Gynecology Department, Toulouse University Hospital - Hôpital Des Enfants, Pediatrics - Endocrinology
- Vanessa Vautier
- Pediatric Diabetology Department, Bordeaux University Hospitals
- Igor Tauveron
- Clermont-Ferrand University Hospital, Endocrinology Department, Clermont Auvergne University
- Sebastien Wambre
- French Turner Syndrome Association (Turner Et Vous Association)
- Delphine Zenaty
- 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 Hospital
- Irène Netchine
- Explorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau Hospital
- Michel Polak
- Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital
- Philippe Touraine
- Endocrinology and Reproductive Medicine Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Pitié Salpétrière University Hospital
- Jean-Claude Carel
- 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 Hospital
- Sophie Christin-Maitre
- Department of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital
- Juliane Léger
- 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 Hospital
- DOI
- https://doi.org/10.1186/s13023-022-02423-5
- Journal volume & issue
-
Vol. 17,
no. S1
pp. 1 – 39
Abstract
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.
Keywords
