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Submitted on June 27, 2006
Accepted on October 6, 2006
National Institutes of Health, National Institute of Child Health
* To whom correspondence should be addressed. E-mail: bondyc{at}mail.nih.gov.
Objectives: To provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS)
Participants: The Turner Syndrome Consensus Study Group is a multi-disciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, April, 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies.
Evidence The Study Group used peer-reviewed published information to form its principle recommendations. Expert opinion was used where good evidence was lacking.
Consensus The study group met for three days to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for further comment on the meeting website. Synthesis of the section reports and final revisions were reviewed by E-mail: and approved by whole group consensus.
Conclusions We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regards to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or non-verbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function throughout the lifespan. We suggest that adults with TS be monitored for aortic enlargement, hypertension, diabetes and dyslipidemia.
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