Clinical practice guidelines for the care of girls and women with Turner syndrome

Claus H Gravholt; Niels H Andersen; Sophie Christin-Maitre; Shanlee M Davis; Anthonie Duijnhouwer; Aneta Gawlik; Andrea T Maciel-Guerra; Iris Gutmark-Little; Kathrin Fleischer; David Hong; Karen O Klein; Siddharth K Prakash; Roopa Kanakatti Shankar; David E Sandberg; Theo C J Sas; Anne Skakkebæk; Kirstine Stochholm; Janielle A van der Velden; International Turner Syndrome Consensus Group; Philippe F Backeljauw

doi:10.1093/ejendo/lvae050

Clinical practice guidelines for the care of girls and women with Turner syndrome

Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050.

Authors

Claus H Gravholt^{1

2

3}, Niels H Andersen⁴, Sophie Christin-Maitre⁵, Shanlee M Davis^{6

7}, Anthonie Duijnhouwer⁸, Aneta Gawlik⁹, Andrea T Maciel-Guerra¹⁰, Iris Gutmark-Little¹¹, Kathrin Fleischer¹², David Hong^{13

14}, Karen O Klein¹⁵, Siddharth K Prakash¹⁶, Roopa Kanakatti Shankar¹⁷, David E Sandberg^{18

19}, Theo C J Sas^{20

21}, Anne Skakkebæk^{2

3

22}, Kirstine Stochholm^{1

23}, Janielle A van der Velden²⁴; International Turner Syndrome Consensus Group; Philippe F Backeljauw¹¹

Collaborators

International Turner Syndrome Consensus Group:
Francisco Alvarez-Nava, Hanna Bjorlin Avdic, Camilla M Balle, Vaneeta Bamba, Ivonne Bedei, Åsa Bonnard, Wendy J Brickman, Nicole M Brown, Steven Chernausek, Jeremy Cobbold, Sarah D Corathers, Christophe Corpechot, Melissa L Crenshaw, Melanie Davies, Asma Deeb, Arianne Dessens, Tazim Dowlut-McElroy, Victoria Elliott, Doris Fadoju, Patricia Y Fechner, Mitchell Geffner, Sarah Gitomer, Katya de Groote, Jacky Hewitt, Cindy Ho, Christa Hutaff-Lee, Tsuyoshi Isojima, Emma B Johannsen, Masanobu Kawai, Ana Keselman, Rebecca Christine Knickmeyer, Jessica Kremen, Berit Kristrøm, Paul Kruszka, Jennifer Law, Angela E Lin, Karen Loechner, Nelly Mauras, Deborah Matthews, Trine Mikkelborg, Kristian Havmand Mortensen, Leena Nahata, Mackenzie Norman, Sheetal R Patel, Charmian Quigley, Lukas O Ridder, Richard J Santen, Nicole Sheanon, Arlene Smyth, Helen Turner, Franciska Verlinde, Mette Hansen Viuff, Malgorzata Wasniewska, Berber van der Weijde, Joachim Woelfle, Jeanne Wolstencroft

Affiliations

¹ Department of Endocrinology, Aarhus University Hospital, 8200 Aarhus N, Denmark.
² Department of Molecular Medicine, Aarhus University Hospital, 8200 Aarhus N, Denmark.
³ Department of Clinical Medicine, Aarhus University, 8200 Aarhus N, Denmark.
⁴ Department of Cardiology, Aalborg University Hospital, 9000 Aalborg, Denmark.
⁵ Endocrine and Reproductive Medicine Unit, Center of Rare Endocrine Diseases of Growth and Development (CMERCD), FIRENDO, Endo ERN Hôpital Saint-Antoine, Sorbonne University, Assistance Publique-Hôpitaux de Paris, 75012 Paris, France.
⁶ Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, United States.
⁷ eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, CO 80045, United States.
⁸ Department of Cardiology, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands.
⁹ Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
¹⁰ Area of Medical Genetics, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, 13083-888 São Paulo, Brazil.
¹¹ Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio 45229, United States.
¹² Department of Reproductive Medicine, Nij Geertgen Center for Fertility, Ripseweg 9, 5424 SM Elsendorp, The Netherlands.
¹³ Division of Interdisciplinary Brain Sciences, Stanford University School of Medicine, Stanford, CA 94304, United States.
¹⁴ Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94304, United States.
¹⁵ Rady Children's Hospital, University of California, San Diego, CA 92123, United States.
¹⁶ Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, United States.
¹⁷ Division of Endocrinology, Children's National Hospital, The George Washington University School of Medicine, Washington, DC 20010, United States.
¹⁸ Susan B. Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109-2800, United States.
¹⁹ Division of Pediatric Psychology, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109-2800, United States.
²⁰ Department the Pediatric Endocrinology, Sophia Children's Hospital, Rotterdam 3015 CN, The Netherlands.
²¹ Department of Pediatrics, Centre for Pediatric and Adult Diabetes Care and Research, Rotterdam 3015 CN, The Netherlands.
²² Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus N, Denmark.
²³ Center for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, 8200 Aarhus N, Denmark.
²⁴ Department of Pediatric Endocrinology, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen 6500 HB, The Netherlands.

PMID: 38748847
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, co-morbidities, 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.

Keywords: Turner syndrome; cardiovascular health; co-morbidity; hypogonadism; infertility; neurocognition; transition.

Publication types

Practice Guideline

MeSH terms

Adolescent
Adult
Child
Europe
Female
Humans
Practice Guidelines as Topic / standards
Puberty / physiology
Turner Syndrome* / diagnosis
Turner Syndrome* / therapy

Abstract

Publication types

MeSH terms

Grants and funding