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

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  • Claus H Gravholt
    1Departments of Endocrinology and Internal Medicine
  • Niels H Andersen
    3Departments of Cardiology, Aarhus University Hospital, Aarhus, Denmark
  • Gerard S Conway
    4Department of Women’s Health, University College London, London, UK
  • Olaf M Dekkers
    5Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands
  • Mitchell E Geffner
    6The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, California, USA
  • Karen O Klein
    7Rady Children’s Hospital, University of California, San Diego, California, USA
  • Angela E Lin
    8Department of Pediatrics, Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts, USA
  • Nelly Mauras
    9Division of Endocrinology, Nemours Children’s Health System, Jacksonville, Florida, USA
  • Charmian A Quigley
    10St Hubert’s Island, New South Wales, Australia
  • Karen Rubin
    11Connecticut Children’s Medical Center, Hartford, Connecticut, USA
  • David E Sandberg
    12Division of Psychology, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
  • Theo C J Sas
    13Department of Pediatric Endocrinology, Sophia Children’s Hospital, Rotterdam, The Netherlands
  • Michael Silberbach
    15Department of Pediatrics, Doernbecher Children’s Hospital, Portland, Oregon, USA
  • Viveca Söderström-Anttila
    16Väestöliitto Fertility Clinics, Helsinki, Finland
  • Kirstine Stochholm
    1Departments of Endocrinology and Internal Medicine
  • Janielle A van Alfen-van derVelden
    18Department of Pediatric Endocrinology, Radboud University Medical Center, Amalia Children’s Hospital, Nijmegen, The Netherlands
  • Joachim Woelfle
    19Department of Pediatric Endocrinology, Children’s Hospital, University of Bonn, Bonn, Germany
  • Philippe F Backeljauw
    20Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
  • _ _

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<jats:p>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.</jats:p>

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