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

doi:10.1186/s13023-022-02423-5

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

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

Authors

Elodie Fiot¹, Bertille Alauze¹, Bruno Donadille², Dinane Samara-Boustani³, Muriel Houang⁴, Gianpaolo De Filippo¹, Anne Bachelot⁵, Clemence Delcour⁶, Constance Beyler⁷, Emilie Bois⁸, Emmanuelle Bourrat⁹, Emmanuel Bui Quoc¹⁰, Nathalie Bourcigaux², Catherine Chaussain¹¹, Ariel Cohen¹², Martine Cohen-Solal¹³, Sabrina Da Costa¹⁴, Claire Dossier¹⁵, Stephane Ederhy¹², Monique Elmaleh¹⁶, Laurence Iserin¹⁷, Hélène Lengliné¹⁸, Armelle Poujol-Robert¹⁹, Dominique Roulot²⁰, Jerome Viala¹⁸, Frederique Albarel²¹, Elise Bismuth²², Valérie Bernard²³, Claire Bouvattier²⁴, Aude Brac²⁵, Patricia Bretones²⁵, Nathalie Chabbert-Buffet²⁶, Philippe Chanson²⁷, Regis Coutant²⁸, Marguerite de Warren²⁹, Béatrice Demaret³⁰, Lise Duranteau³¹, Florence Eustache³², Lydie Gautheret¹, Georges Gelwane¹, Claire Gourbesville³³, Mickaël Grynberg³⁴, Karinne Gueniche¹⁴, Carina Jorgensen³⁵, Veronique Kerlan³⁶, Charlotte Lebrun¹, Christine Lefevre³⁷, Françoise Lorenzini³⁸, Sylvie Manouvrier³⁹, Catherine Pienkowski⁴⁰, Rachel Reynaud⁴¹, Yves Reznik³³, Jean-Pierre Siffroi⁴², Anne-Claude Tabet⁴³, Maithé Tauber⁴⁴, Vanessa Vautier⁴⁵, Igor Tauveron⁴⁶, Sebastien Wambre⁴⁷, Delphine Zenaty¹, Irène Netchine⁴, Michel Polak³, Philippe Touraine⁵, Jean-Claude Carel¹, Sophie Christin-Maitre², Juliane Léger⁴⁸

Affiliations

¹ 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, 48 Bd Sérurier, 75019, Paris, France.
² Department of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.
³ 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, 75015, Paris, France.
⁴ Explorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau Hospital, 75012, Paris, France.
⁵ 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, 75013, Paris, France.
⁶ Department of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
⁷ Cardiopaediatric Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
⁸ Pediatric Otorhinolaryngology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
⁹ Dermatology Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
¹⁰ Ophthalmology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
¹¹ Odontology Department, Assistance Publique-Hôpitaux de Paris, University Hospitals Charles Foix, PNVS, and Henri Mondor, 94000, Créteil, France.
¹² Department of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.
¹³ Department of Rheumatology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Lariboisière Hospital, 75010, Paris, France.
¹⁴ Reference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital, 75015, Paris, France.
¹⁵ Department of Paediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
¹⁶ Department of Radiology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
¹⁷ Adult Congenital Heart Disease Unit, Cardiology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Georges Pompidou University Hospital, 75015, Paris, France.
¹⁸ Department of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
¹⁹ Hepatology Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.
²⁰ Hepatology Department, Assistance Publique-Hopitaux de Paris, Université Sorbonne Paris Nord, Avicenne Hospital, 93009, Bobigny, France.
²¹ Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille. Hospital La Conception, 13005, Marseille, France.
²² 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, 75019, Paris, France.
²³ CHU Pellegrin, Department of Gynecological Surgery, Medical Gynecology and Reproductive Medicine, Centre Aliénor d'aquitaine, Bordeaux University Hospitals, 33000, Bordeaux, France.
²⁴ Paediatric Endocrinology Department, Reference Center for Rare Genital Development Disorders, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University, 94270, Le Kremlin-Bicêtre, France.
²⁵ Department of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital Group, 69677, Bron, France.
²⁶ Gynecology-Obstetrics and Reproductive Medicine Department, Assistance Publique-Hôpitaux de Paris, Tenon University Hospital, 75020, Paris, France.
²⁷ Department of Endocrinology and Reproductive Diseases, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University, 94270, Le Kremlin-Bicêtre, France.
²⁸ Department of Pediatric Endocrinology and Diabetology and Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, Angers University Hospital, 49100, Angers, France.
²⁹ AGAT, French Turner Syndrome Association (AGAT; Association Des Groupes Amitié Turner), 75011, Paris, France.
³⁰ Grandir Association (French Growth Disorders Association), 92600, Asnières-sur-Seine, France.
³¹ 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, 94270, Le Kremlin-Bicêtre, France.
³² Reproductive Biology Department, Assistance Publique-Hôpitaux de Paris, Jean Verdier University Hospital, 93140, Bondy, France.
³³ Department of Endocrinology and Metabolic Diseases, Caen University Hospital, 14000, Caen, France.
³⁴ Department of Reproductive Medicine and Fertility Preservation, Assistance Publique-Hôpitaux de Paris, Antoine Béclère University Hospital, 92140, Clamart, France.
³⁵ Endocrinology and Metabolism Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.
³⁶ Endocrinology and Metabolism Department, Brest University Hospital Centre, 29200, Brest, France.
³⁷ Pediatric Endocrinology, Lille University Jeanne de Flandre Hospital, 59000, Lille, France.
³⁸ Department of Endocrinology, Toulouse University Paule Viguier Hospital, 31300, Toulouse, France.
³⁹ Clinical Genetics Department, DEV GEN Genital Development Reference Center, Lille University Jeanne de Flandre Hospital, 59000, Lille, France.
⁴⁰ Genetics and Medical Gynecology Department, Reference Center for Rare Gynecological Pathologies, Toulouse University Hospitals - Hôpital Des Enfants, Pediatrics - Endocrinology, 31059, Toulouse, France.
⁴¹ Department of Multidisciplinary Pediatrics, Reference Center for Pituitary Rare Diseases Aix Marseille University, Assistance Publique-Hôpitaux de Marseille, Hôpital de La Timone Enfants, 13005, Marseille, France.
⁴² Genetics and Embryology Department, Sorbonne Université; INSERM UMRS-933, Assistance Publique-Hôpitaux de Paris, Hôpital d'Enfants Armand-Trousseau, Paris, France.
⁴³ Genetics Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
⁴⁴ Genetics and Medical Gynecology Department, Toulouse University Hospital - Hôpital Des Enfants, Pediatrics - Endocrinology, 31059, Toulouse, France.
⁴⁵ Pediatric Diabetology Department, Bordeaux University Hospitals, 33000, Bordeaux, France.
⁴⁶ Clermont-Ferrand University Hospital, Endocrinology Department, Clermont Auvergne University, 63000, Clermont-Ferrand, France.
⁴⁷ French Turner Syndrome Association (Turner Et Vous Association), 59155, Faches-Thumesnil, France.
⁴⁸ 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, 48 Bd Sérurier, 75019, Paris, France. juliane.leger@aphp.fr.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Chromosomes, Human, X / genetics
Diabetes Mellitus, Type 2*
Female
Humans
Karyotype
Karyotyping
Turner Syndrome* / diagnosis
Turner Syndrome* / genetics
Turner Syndrome* / therapy