Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Author:

Gravholt Claus H12,Andersen Niels H3,Conway Gerard S4,Dekkers Olaf M5,Geffner Mitchell E6,Klein Karen O7,Lin Angela E8,Mauras Nelly9,Quigley Charmian A10,Rubin Karen11,Sandberg David E12,Sas Theo C J1314,Silberbach Michael15,Söderström-Anttila Viveca16,Stochholm Kirstine117,van Alfen-van derVelden Janielle A18,Woelfle Joachim19,Backeljauw Philippe F20,_ _

Affiliation:

1. 1Departments of Endocrinology and Internal Medicine

2. 2Departments of Molecular Medicine

3. 3Departments of Cardiology, Aarhus University Hospital, Aarhus, Denmark

4. 4Department of Women’s Health, University College London, London, UK

5. 5Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands

6. 6The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, California, USA

7. 7Rady Children’s Hospital, University of California, San Diego, California, USA

8. 8Department of Pediatrics, Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts, USA

9. 9Division of Endocrinology, Nemours Children’s Health System, Jacksonville, Florida, USA

10. 10St Hubert’s Island, New South Wales, Australia

11. 11Connecticut Children’s Medical Center, Hartford, Connecticut, USA

12. 12Division of Psychology, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA

13. 13Department of Pediatric Endocrinology, Sophia Children’s Hospital, Rotterdam, The Netherlands

14. 14Department of Pediatrics, Dordrecht, The Netherlands

15. 15Department of Pediatrics, Doernbecher Children’s Hospital, Portland, Oregon, USA

16. 16Väestöliitto Fertility Clinics, Helsinki, Finland

17. 17Center for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark

18. 18Department of Pediatric Endocrinology, Radboud University Medical Center, Amalia Children’s Hospital, Nijmegen, The Netherlands

19. 19Department of Pediatric Endocrinology, Children’s Hospital, University of Bonn, Bonn, Germany

20. 20Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA

Abstract

Turner syndrome affects 25–50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting.

Publisher

Bioscientifica

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

Reference571 articles.

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2. Aneurysmal dilatation of medium caliber arteries in Turner syndrome;Congenital Heart Disease,2011

3. Approach to the patient with Turner syndrome;Journal of Clinical Endocrinology and Metabolism,2010

4. Normalization of height in girls with Turner syndrome after long-term growth hormone treatment: results of a randomized dose-response trial;Journal of Clinical Endocrinology and Metabolism,1999

5. Salutary effects of combining early very low-dose systemic estradiol with growth hormone therapy in girls with Turner syndrome;Journal of Clinical Endocrinology and Metabolism,2005

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