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. 2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.

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

Elodie Fiot  1 Bertille Alauze  1 Bruno Donadille  2 Dinane Samara-Boustani  3 Muriel Houang  4 Gianpaolo De Filippo  1 Anne Bachelot  5 Clemence Delcour  6 Constance Beyler  7 Emilie Bois  8 Emmanuelle Bourrat  9 Emmanuel Bui Quoc  10 Nathalie Bourcigaux  2 Catherine Chaussain  11 Ariel Cohen  12 Martine Cohen-Solal  13 Sabrina Da Costa  14 Claire Dossier  15 Stephane Ederhy  12 Monique Elmaleh  16 Laurence Iserin  17 Hélène Lengliné  18 Armelle Poujol-Robert  19 Dominique Roulot  20 Jerome Viala  18 Frederique Albarel  21 Elise Bismuth  22 Valérie Bernard  23 Claire Bouvattier  24 Aude Brac  25 Patricia Bretones  25 Nathalie Chabbert-Buffet  26 Philippe Chanson  27 Regis Coutant  28 Marguerite de Warren  29 Béatrice Demaret  30 Lise Duranteau  31 Florence Eustache  32 Lydie Gautheret  1 Georges Gelwane  1 Claire Gourbesville  33 Mickaël Grynberg  34 Karinne Gueniche  14 Carina Jorgensen  35 Veronique Kerlan  36 Charlotte Lebrun  1 Christine Lefevre  37 Françoise Lorenzini  38 Sylvie Manouvrier  39 Catherine Pienkowski  40 Rachel Reynaud  41 Yves Reznik  33 Jean-Pierre Siffroi  42 Anne-Claude Tabet  43 Maithé Tauber  44 Vanessa Vautier  45 Igor Tauveron  46 Sebastien Wambre  47 Delphine Zenaty  1 Irène Netchine  4 Michel Polak  3 Philippe Touraine  5 Jean-Claude Carel  1 Sophie Christin-Maitre  2 Juliane Léger  48
Affiliations

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

Elodie Fiot et al. Orphanet J Rare Dis. .

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: Adulthood; Childhood; Diagnosis; Management; Recommendation; Turner’s syndrome.

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Conflict of interest statement

The authors declare that they have no competing interests.

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