New issues in the diagnosis and management of Turner syndrome

Rev Endocr Metab Disord. 2005 Dec;6(4):269-80. doi: 10.1007/s11154-005-6185-z.

Abstract

This review has tried to update our view of TS, highlighting the less severe phenotype we are seeing today, aiming to motivate clinicians to scrutinize normal looking short girls more closely, and to provide more relevant information for those counseling prospective parents on the implications of a TS karyotype during prenatal screening. New approaches to cardiac evaluation, including imaging with MR and ECG analysis-were suggested to strengthen our ability to detect and prevent potentially life-threatening cardiac complications. The new emphasis on reproductive potential and concerns about the adequacy and safety of current HRT regimens certainly require further studies and adjustment of treatment strategies in light of new priorities and safety concerns. In the same vein, prospective studies are required to assess the outcome and safety of assisted pregnancy in TS, which, despite the warning ofa potential catastrophic increase in maternal morbidity is going to become a much more common occurrence in the near future.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Electrocardiography
  • Estrogen Replacement Therapy
  • False Positive Reactions
  • Female
  • Heart Defects, Congenital / diagnosis
  • Human Growth Hormone / therapeutic use
  • Humans
  • Osteoporosis / etiology
  • Pregnancy
  • Pregnancy Complications
  • Prenatal Diagnosis
  • Turner Syndrome* / diagnosis
  • Turner Syndrome* / genetics
  • Turner Syndrome* / therapy

Substances

  • Human Growth Hormone