ArticleOrphanet journal of rare diseases2022
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
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Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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25citing papers in PubMed, 2 pooled it
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Turner Syndrome and the Thyroid Function-A Systematic and Critical Review.International journal of molecular sciences · 2024Pooled it
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- A Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature.Internal medicine (Tokyo, Japan) · 2026Review
- Review
- Live birth after oocyte donation in women with Turner syndrome compared with other causes of premature ovarian insufficiency: a retrospective cohort study.Journal of assisted reproduction and genetics · 2026Article
- Karyotype-specific cardiovascular and metabolic profiles in Turner syndrome: a retrospective echocardiographic study.Orphanet journal of rare diseases · 2026Article
- A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome.The Indian journal of medical research · 2026Article
- The impact of X chromosome inactivation on human health.Frontiers in genetics · 2026Review
- Turner syndrome across the lifespan: a 25-year single-center experience from neonatal diagnosis to adult outcomes.Frontiers in endocrinology · 2026Article
- History and Current Status of Growth Hormone Treatment in Children.Paediatric drugs · 2025Article
- Might Thyroid Function in Patients with Turner Syndrome Have a Significant Impact on Their Muscle Strength?International journal of molecular sciences · 2025Article
- Current understanding and perspectives on growth and long-acting GH therapy in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Review
- Bilateral Streak Ovaries in a Patient with Isochromosome Xq: A Case Report of a Turner Syndrome Variant.International medical case reports journal · 2025Article
- Growth hormone therapy and chromosomal mosaicism in turner syndrome: 25 years of growth outcomes in Taiwan.Frontiers in endocrinology · 2025Article
- [Reflections on the clinical diagnosis and management of Turner syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Lifelong medical challenges and immunogenetics of Turner syndrome.Clinical and experimental pediatrics · 2024Article
- Response of children with Turner syndrome with different types of karyotype abnormalities to growth hormone treatment.Annals of pediatric endocrinology & metabolism · 2024Article
- Visual Impairment in Women with Turner Syndrome-A 49-Year Literature Review.Journal of clinical medicine · 2024Review
- Celiac Disease-Related Enamel Defects: A Systematic Review.Journal of clinical medicine · 2024Review
Corrections and comments
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Authors and funding
65 authors.
Elodie FiotPediatric 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.
Bertille AlauzePediatric 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.
Bruno DonadilleDepartment 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.
Dinane Samara-BoustaniPediatric 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.
Muriel HouangExplorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau Hospital, 75012, Paris, France.
Gianpaolo De FilippoPediatric 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.
Anne BachelotEndocrinology 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.
Clemence DelcourDepartment of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Constance BeylerCardiopaediatric Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Emilie BoisPediatric Otorhinolaryngology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Emmanuelle BourratDermatology Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Emmanuel Bui QuocOphthalmology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Nathalie BourcigauxDepartment 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.
Catherine ChaussainOdontology Department, Assistance Publique-Hôpitaux de Paris, University Hospitals Charles Foix, PNVS, and Henri Mondor, 94000, Créteil, France.
Ariel CohenDepartment of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.
Martine Cohen-SolalDepartment of Rheumatology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Lariboisière Hospital, 75010, Paris, France.
Sabrina Da CostaReference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital, 75015, Paris, France.
Claire DossierDepartment of Paediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Stephane EderhyDepartment of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.
Monique ElmalehDepartment of Radiology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Laurence IserinAdult Congenital Heart Disease Unit, Cardiology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Georges Pompidou University Hospital, 75015, Paris, France.
Hélène LenglinéDepartment of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Armelle Poujol-RobertHepatology Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.
Dominique RoulotHepatology Department, Assistance Publique-Hopitaux de Paris, Université Sorbonne Paris Nord, Avicenne Hospital, 93009, Bobigny, France.
Jerome VialaDepartment of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Frederique AlbarelDepartment of Endocrinology, Assistance Publique-Hôpitaux de Marseille. Hospital La Conception, 13005, Marseille, France.
Elise BismuthDepartment 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.
Valérie BernardCHU Pellegrin, Department of Gynecological Surgery, Medical Gynecology and Reproductive Medicine, Centre Aliénor d'aquitaine, Bordeaux University Hospitals, 33000, Bordeaux, France.
Claire BouvattierPaediatric 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.
Aude BracDepartment of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital Group, 69677, Bron, France.
Patricia BretonesDepartment of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital Group, 69677, Bron, France.
Nathalie Chabbert-BuffetGynecology-Obstetrics and Reproductive Medicine Department, Assistance Publique-Hôpitaux de Paris, Tenon University Hospital, 75020, Paris, France.
Philippe ChansonDepartment of Endocrinology and Reproductive Diseases, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University, 94270, Le Kremlin-Bicêtre, France.
Regis CoutantDepartment of Pediatric Endocrinology and Diabetology and Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, Angers University Hospital, 49100, Angers, France.
Marguerite de WarrenAGAT, French Turner Syndrome Association (AGAT; Association Des Groupes Amitié Turner), 75011, Paris, France.
Béatrice DemaretGrandir Association (French Growth Disorders Association), 92600, Asnières-sur-Seine, France.
Lise DuranteauAdolescent 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.
Florence EustacheReproductive Biology Department, Assistance Publique-Hôpitaux de Paris, Jean Verdier University Hospital, 93140, Bondy, France.
Lydie GautheretPediatric 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.
Georges GelwanePediatric 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.
Claire GourbesvilleDepartment of Endocrinology and Metabolic Diseases, Caen University Hospital, 14000, Caen, France.
Mickaël GrynbergDepartment of Reproductive Medicine and Fertility Preservation, Assistance Publique-Hôpitaux de Paris, Antoine Béclère University Hospital, 92140, Clamart, France.
Karinne GuenicheReference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital, 75015, Paris, France.
Carina JorgensenEndocrinology and Metabolism Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.
Veronique KerlanEndocrinology and Metabolism Department, Brest University Hospital Centre, 29200, Brest, France.
Charlotte LebrunPediatric 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.
Christine LefevrePediatric Endocrinology, Lille University Jeanne de Flandre Hospital, 59000, Lille, France.
Françoise LorenziniDepartment of Endocrinology, Toulouse University Paule Viguier Hospital, 31300, Toulouse, France.
Sylvie ManouvrierClinical Genetics Department, DEV GEN Genital Development Reference Center, Lille University Jeanne de Flandre Hospital, 59000, Lille, France.
Catherine PienkowskiGenetics and Medical Gynecology Department, Reference Center for Rare Gynecological Pathologies, Toulouse University Hospitals - Hôpital Des Enfants, Pediatrics - Endocrinology, 31059, Toulouse, France.
Rachel ReynaudDepartment 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.
Yves ReznikDepartment of Endocrinology and Metabolic Diseases, Caen University Hospital, 14000, Caen, France.
Jean-Pierre SiffroiGenetics and Embryology Department, Sorbonne Université; INSERM UMRS-933, Assistance Publique-Hôpitaux de Paris, Hôpital d'Enfants Armand-Trousseau, Paris, France.
Anne-Claude TabetGenetics Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.
Maithé TauberGenetics and Medical Gynecology Department, Toulouse University Hospital - Hôpital Des Enfants, Pediatrics - Endocrinology, 31059, Toulouse, France.
Vanessa VautierPediatric Diabetology Department, Bordeaux University Hospitals, 33000, Bordeaux, France.
Igor TauveronClermont-Ferrand University Hospital, Endocrinology Department, Clermont Auvergne University, 63000, Clermont-Ferrand, France.
Sebastien WambreFrench Turner Syndrome Association (Turner Et Vous Association), 59155, Faches-Thumesnil, France.
Delphine ZenatyPediatric 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.
Irène NetchineExplorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau Hospital, 75012, Paris, France.
Michel PolakPediatric 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.
Philippe TouraineEndocrinology 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.
Jean-Claude CarelPediatric 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.
Sophie Christin-MaitreDepartment 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.
Juliane LégerPediatric 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.ORCID 0000-0003-3708-7341
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Diabetes Mellitus, Type 2Turner SyndromeAdultChromosomes, Human, XFemaleHumansKaryotypeKaryotypingAdulthoodChildhoodDiagnosisManagementRecommendationTurner’s syndrome
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