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  11. Clinical Practice Guidelines For The Care Of Girls And Women With Turner Syndrome.
  1. Home
  3. Research Domains
  5. Health Sciences
  7. Health Services And Systems
  9. Family Care
  11. Clinical Practice Guidelines For The Care Of Girls And Women With Turner Syndrome.

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

Claus H Gravholt1,2,3, Niels H Andersen4, Sophie Christin-Maitre5

  • 1Department of Endocrinology, Aarhus University Hospital, 8200 Aarhus N, Denmark.

European Journal of Endocrinology
|May 15, 2024

View abstract on PubMed

Summary
This summary is machine-generated.

Updated guidelines offer comprehensive, multidisciplinary care recommendations for Turner syndrome (TS), a rare genetic condition affecting females. These guidelines incorporate the latest advances in diagnostics, genetics, and lifelong management of TS comorbidities and well-being.

Keywords:
Turner syndromecardiovascular healthco-morbidityhypogonadism

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Area of Science:

  • Endocrinology
  • Genetics
  • Rare Diseases

Background:

  • Turner syndrome (TS) affects 50 per 100,000 females, impacting multiple organs throughout life and requiring specialized, multidisciplinary care.
  • Previous guidelines for TS care have been extended to incorporate significant new advancements.

Purpose of the Study:

  • To present updated, evidence-based clinical guidelines for the diagnosis and lifelong management of Turner syndrome.
  • To consolidate recent advances in TS diagnostics, genetics, estrogen treatment, fertility, comorbidities, and neurocognition.

Main Methods:

  • A consensus meeting was held in Aarhus, Denmark, in June 2023, following exploratory meetings in Europe and the US in 2021.
  • Eight expert groups addressed key areas of TS care, producing proposals that were meticulously discussed.
infertility
neurocognition
transition
  • Four key questions underwent formal GRADE evaluation with systematic literature reviews.

    • Main Results:

    • Guidelines cover diagnosis, genetics, growth, puberty, estrogen treatment, cardiovascular health, transition of care, fertility, comorbidity surveillance, and neurocognition.
    • Recommendations integrate the latest research and expert consensus on managing TS across all life stages.

    Conclusions:

    • These updated guidelines provide a comprehensive framework for optimizing multidisciplinary care for individuals with Turner syndrome.
    • The guidelines emphasize the importance of addressing the multifaceted health and well-being needs of females with TS throughout their lifespan.