New issues in the diagnosis and management of Turner syndrome.

Carolyn A Bondy
Author Information
  1. Carolyn A Bondy: Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA. bondyc@mail.nih.gov

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.

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Grants

  1. /Intramural NIH HHS

MeSH Term

Adolescent
Adult
Electrocardiography
Estrogen Replacement Therapy
False Positive Reactions
Female
Heart Defects, Congenital
Human Growth Hormone
Humans
Osteoporosis
Pregnancy
Pregnancy Complications
Prenatal Diagnosis
Turner Syndrome

Chemicals

Human Growth Hormone

Word Cloud

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