Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome

Claus H. Gravholt, Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.
Niels H. Andersen, Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark.
Sophie Christin-Maitre, 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, Paris, France.
Shanlee M. Davis, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Anthonie Duijnhouwer, Department of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands.
Aneta Gawlik, Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia.
Andrea T. Maciel-Guerra, Area of Medical Genetics, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, São Paulo, Brazil.
Iris Gutmark-Little, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Ohio, USA.
Kathrin Fleischer, Nij Geertgen Center for Fertility, Department of Reproductive Medicine, Ripseweg 9, 5424 SM, Elsendorp, The Netherlands.
David Hong, Division of Interdisciplinary Brain Sciences, Stanford University School of Medicine, Stanford, CA, USA.
Karen O. Klein, Rady Children's Hospital, University of California, San Diego, California, USA.
Siddharth K. Prakash, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Roopa Kanakatti Shankar, Division of Endocrinology, Children's National Hospital, The George Washington University School of Medicine, Washington, DC 20010, USA.
David E. Sandberg, Susan B. Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
Theo C. Sas, Department of Pediatric Endocrinology, Sophia Children's Hospital,  Rotterdam, The Netherlands.
Anne Skakkebæk, Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Kirstine Stochholm, Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.
Janielle A. van der Velden, Department of Pediatric Endocrinology, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.

Document Type

Journal Article

Publication Date

5-15-2024

Journal

European journal of endocrinology

DOI

10.1093/ejendo/lvae050

Abstract

Turner syndrome affects 50 per 100,000 females, 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 US 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.

Department

Pediatrics

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