Clinical practice guidelines for the care of girls and women with Turner syndrome Proceedings from the 2023 Aarhus International Turner Syndrome Meeting

Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TC, Skakkebæk A, Stochholm K, van der Velden JA, Backeljauw PF, Alvarez-Nava F, Avdic HB, Balle CM, Bamba V, Bedei I, Bonnard Å, Brickman WJ, Brown NM, Chernausek S, Cobbold J, Corathers SD, Corpechot C, Crenshaw ML, Davies M, Deeb A, Dessens A, Dowlut-McElroy T, Elliott V, Fadoju D, Fechner PY, Geffner M, Gitomer S, de Groote K, Hewitt J, Ho C, Hutaff-Lee C, Isojima T, Johannsen EB, Kawai M, Keselman A, Knickmeyer RC, Kremen J, Kristrøm B, Kruszka P, Law J, Lin AE, Loechner K, Mauras N, Matthews D, Mikkelborg T, Mortensen KH, Nahata L, Norman M, Patel SR, Quigley C, Ridder LO, Santen RJ, Sheanon N, Smyth A, Turner H, Verlinde F, Viuff MH, Wasniewska M, van der Weijde B, Wölfle J, Wolstencroft J (2024)

Publication Type: Journal article

Publication year: 2024

Journal

Book Volume: 190

Pages Range: G53-G151

Journal Issue: 6

DOI: 10.1093/ejendo/lvae050

Abstract

Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, comorbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.

Authors with CRIS profile

Involved external institutions

Hôpital Saint-Antoine France (FR) Aarhus University Hospital / Aarhus Universitetshospital Denmark (DK) University Hospital Ghent Belgium (BE) Monash Children's Hospital Australia (AU) Turner Syndrome Support Society United Kingdom (GB) Aalborg Universitetshospital Denmark (DK) University of Colorado Anschutz Medical Campus United States (USA) (US) Radboud University Nijmegen Medical Centre / Radboudumc of voluit Radboud Universitair Medisch Centrum (UMC) Netherlands (NL) Medical University of Silesia in Katowice / Śląski Uniwersytet Medyczny w Katowicach (SUM) Poland (PL) Universidade Estadual de Campinas (UNICAMP) / University of Campinas Brazil (BR) University of Cincinnati United States (USA) (US) Nij Geertgen Center for Fertility Netherlands (NL) Stanford University United States (USA) (US) University of California, San Diego United States (USA) (US) McGovern Medical School United States (USA) (US) George Washington University (GWU) United States (USA) (US) University of Michigan United States (USA) (US) Erasmus MC - Sophia Children’s Hospital Netherlands (NL) Universidad Central del Ecuador Ecuador (EC) Karolinska Institute Sweden (SE) Perelman School of Medicine University of Pennsylvania United States (USA) (US) Justus-Liebig-Universität Gießen Germany (DE) Karolinska University Hospital / Karolinska Universitetssjukhuset Sweden (SE) Northwestern University United States (USA) (US) Cincinnati Children's Hospital Medical Center United States (USA) (US) University of Oklahoma United States (USA) (US) Oxford University Hospitals NHS Foundation Trust United Kingdom (GB) Johns Hopkins All Children's Hospital (ACH) United States (USA) (US) University College London Hospitals (UCLH) United Kingdom (GB) Khalifa University of Science, Technology & Research (KUSTAR) / جامعة خليفة United Arab Emirates (AE) Children's Mercy Hospital United States (USA) (US) Nationwide Children's Hospital United States (USA) (US) Emory University United States (USA) (US) University of Washington United States (USA) (US) University of California Los Angeles (UCLA) United States (USA) (US) Children’s Hospital Colorado United States (USA) (US) NUS Yong Loo Lin School of Medicine Singapore (SG) Toranomon Hospital Japan (JP) Osaka Women's and Children's Hospital / 大阪母子医療センター Japan (JP) Hospital General de Niños Ricardo Gutierrez (HNRG) Argentina (AR) Michigan State University United States (USA) (US) Boston Children's Hospital United States (USA) (US) Umeå University Sweden (SE) GeneDX United States (USA) (US) University of North Carolina at Chapel Hill United States (USA) (US) MassGeneral for Children United States (USA) (US) Connecticut Children's Medical Center United States (USA) (US) Nemours Children's Hospital United States (USA) (US) Great North Children's Hospital United Kingdom (GB) Great Ormond Street Hospital (GOSH) United Kingdom (GB) Ohio State University United States (USA) (US) Sydney Children’s Hospitals Network Australia (AU) University of Virginia (UVA) United States (USA) (US) Churchill Hospital United Kingdom (GB) Belgian Society for PEdiatric Endocrinology and DiabetesN (BELSPEED) Belgium (BE) University of Messina / Università degli Studi di Messina Italy (IT) Turner Contact Nederland Netherlands (NL) University College London (UCL) United Kingdom (GB)

How to cite

APA:

Gravholt, C.H., Andersen, N.H., Christin-Maitre, S., Davis, S.M., Duijnhouwer, A., Gawlik, A.,... Wolstencroft, J. (2024). Clinical practice guidelines for the care of girls and women with Turner syndrome Proceedings from the 2023 Aarhus International Turner Syndrome Meeting. European Journal of Endocrinology, 190(6), G53-G151. https://doi.org/10.1093/ejendo/lvae050

MLA:

Gravholt, Claus H., et al. "Clinical practice guidelines for the care of girls and women with Turner syndrome Proceedings from the 2023 Aarhus International Turner Syndrome Meeting." European Journal of Endocrinology 190.6 (2024): G53-G151.

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