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[Turner syndrome].

S Cabrol1

  • 1Service d'endocrinologie pédiatrique, université Pierre-et-Marie-Curie, Paris-VI, hôpital Armand-Trousseau, APHP, 26, avenue du Docteur-Arnold-Netter, 75571 Paris cedex 12, France. sylvie.cabrol@trs.aphp.fr

Annales D'Endocrinologie
|February 27, 2007
PubMed
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Turner syndrome, a chromosomal condition affecting females, presents with varied symptoms and requires lifelong monitoring. Early intervention and management of associated health issues improve quality of life.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Turner syndrome affects approximately 1 in 5,000 live female births.
  • It results from X-chromosome monosomy, mosaicism, or abnormalities in X or Y chromosomes.
  • Clinical features are diverse, often subtle, necessitating comprehensive evaluation.

Purpose of the Study:

  • To outline the genetic causes and heterogeneous clinical manifestations of Turner syndrome.
  • To emphasize the importance of growth hormone therapy for height.
  • To highlight the need for screening and long-term management of associated visceral diseases and quality of life factors.

Main Methods:

  • Review of genetic causes including monosomy X, mosaicism, and chromosomal abnormalities.
  • Description of clinical features, physical anomalies, and common comorbidities.

Related Experiment Videos

  • Discussion of diagnostic approaches, including prenatal screening and incidental findings.
  • Evaluation of treatment impacts, particularly growth hormone therapy and pubertal induction.
  • Assessment of factors influencing quality of life and long-term prognosis.

    • Main Results:

    • Short stature is a universal feature, improved by growth hormone therapy.
    • Ovarian failure is frequent, with onset varying by chromosomal anomaly.
    • Associated conditions like cardiovascular issues, deafness, and thyroid dysfunction require screening and monitoring.
    • Prenatal diagnosis can be challenging, especially for milder forms.
    • Quality of life is linked to timely puberty, and absence of cardiac disease or deafness.

    Conclusions:

    • Turner syndrome necessitates a multidisciplinary approach for managing diverse health issues.
    • Long-term follow-up is crucial for addressing potential complications such as heart disease, obesity, hypertension, and osteoporosis.
    • Optimizing quality of life involves timely pubertal induction and management of associated conditions.