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Journal Articles Orphanet Journal of Rare Diseases Year : 2022

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

Elodie Fiot (1, 2) , Bertille Alauze (1, 2) , Bruno Donadille (3) , Dinane Samara-Boustani (4) , Muriel Houang (5) , Gianpaolo de Filippo (1, 2) , Anne Bachelot (6) , Clemence Delcour (7) , Constance Beyler (8) , Emilie Bois (8) , Emmanuelle Bourrat (8) , Emmanuel Bui Quoc (8) , Nathalie Bourcigaux (3) , Catherine Chaussain (9) , Ariel Cohen (3) , Martine Cohen-Solal (10) , Sabrina da Costa (4) , Claire Dossier (8) , Stephane Ederhy (3) , Monique Elmaleh (8) , Laurence Iserin (11) , Hélène Lengliné (8) , Armelle Poujol-Robert (3) , Dominique Roulot (12) , Jerome Viala (8) , Frederique Albarel (13) , Elise Bismuth (8) , Valérie Bernard (14) , Claire Bouvattier (15) , Aude Brac (16) , Patricia Bretones (16) , Nathalie Chabbert-Buffet (17) , Philippe Chanson (17) , Regis Coutant (18) , Marguerite de Warren , Béatrice Demaret , Lise Duranteau (15) , Florence Eustache (19) , Lydie Gautheret (1, 2) , Georges Gelwane (1, 2) , Claire Gourbesville (20) , Mickaël Grynberg (21) , Karinne Gueniche (4) , Carina Jorgensen (3) , Veronique Kerlan (22) , Charlotte Lebrun (1, 2) , Christine Lefevre (23) , Françoise Lorenzini (24) , Sylvie Manouvrier (23) , Catherine Pienkowski (24) , Rachel Reynaud (25) , Yves Reznik (26) , Jean-Pierre Siffroi (27, 5) , Anne-Claude Tabet (28) , Maïthé Tauber (24) , Irène Netchine (29) , Vanessa Vautier , Igor Tauveron (30) , Sebastien Wambre , Delphine Zenaty (1, 2) , Michel Polak (4) , Philippe Touraine (6) , Jean-Claude Carel (1, 2) , Sophie Christin-Maitre (3) , Juliane Léger (1, 2)
1 Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré]
2 NeuroDiderot (UMR_S_1141 / U1141) - Maladies neurodéveloppementales et neurovasculaires
3 CHU Saint-Antoine [AP-HP]
4 Service d'endocrinologie, gynécologie et diabétologie pédiatriques [CHU Necker]
5 CHU Trousseau [APHP]
6 CHU Pitié-Salpêtrière [AP-HP]
7 Département d'obstétrique et de gynécologie [Hôpital Robert Debré]
8 AP-HP Hôpital universitaire Robert-Debré [Paris]
9 CHU Charles Foix [AP-HP]
10 Service de Rhumatologie [CHU Lariboisière]
11 HEGP - Hôpital Européen Georges Pompidou [APHP]
12 Hôpital Avicenne [AP-HP]
13 Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM]
14 CHU de Bordeaux Pellegrin [Bordeaux]
15 Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
16 HCL - Hospices Civils de Lyon
17 CHU Tenon [AP-HP]
18 Endocrinologie pédiatrique[CHU Angers]
19 Hôpital Jean Verdier [AP-HP]
20 Service Endocrinologie - Diabétologie [CHU Caen]
21 AP-HP - Hôpital Antoine Béclère [Clamart]
22 CHRU Brest - Centre Hospitalier Régional Universitaire de Brest
23 Hôpital Jeanne de Flandre [Lille]
24 Service Endocrinologie, génétique et gynécologie médicale pédiatrique [CHU Toulouse]
25 Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM]
26 CHU Caen
27 U933 - Maladies génétiques d'expression pédiatrique
28 Département de génétique [Robert Debré]
29 CRSA - Centre de Recherche Saint-Antoine
30 CHU Clermont-Ferrand
Philippe Chanson
Marguerite de Warren
  • Function : Author
Béatrice Demaret
  • Function : Author
Yves Reznik
  • Function : Author
Vanessa Vautier
  • Function : Author
Sebastien Wambre
  • Function : Author

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
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inserm-04031866 , version 1 (16-03-2023)

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Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, et al.. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). Orphanet Journal of Rare Diseases, 2022, 17 (S1), pp.261. ⟨10.1186/s13023-022-02423-5⟩. ⟨inserm-04031866⟩
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