National Institutes of Health (NIH) Turner Syndrome Study

You are invited to take part in this study if you are at least 10 years old and have a karyotype showing 70% or more abnormal cells.

 This NIH study is an in-depth and comprehensive characterization of clinical features of Turner syndrome. We aim to refine the diagnosis and recognition of potential and existing medical problems, resulting in improved preventative and therapeutic medical care. Individuals with Turner's have a high risk for developing high blood pressure, problems with major blood vessels including potentially life-threatening rupture of the aorta, diabetes, and osteoporosis.
 
We aim to identify the specific cause(s) of these medical problems and improve the diagnosis and treatment of girls and women with Turner syndrome in the future. One of the most distressing aspects of this disorder for many patients has been the lack of adequate medical information on the diagnosis and its implications. This protocol includes counseling and will provide participants with extensive opportunities to ask questions and discuss their diagnosis and medical/social issues with the physicians, research nurses and counselors involved in the study. Indeed, a specific goal of the study is the identification of major concerns people affected with Turner syndrome and development of a counseling program that will effectively address these concerns. The results of clinical studies will be provided in written form to study subjects and to their physicians.

This study includes a 4-5 day inpatient stay at the NIH hospital in Bethesda, MD. Testing includes a physical exam, body measurements, a very thorough evaluation of the heart, including cardiac magnetic resonance, echocardiogram, electrocardiographic analysis and evaluation by cardiology team with special expertise in Turner syndrome. In addition we measure bone mineral density at many different bone sites, and measure the body composition in terms of fat vs. muscle tissue. All subjects get an individualized nutritional consultation. In addition we evaluate the kidneys, liver, uterus and ovaries with ultrasound scans. We check hormones from the pituitary, gonads, adrenals and thyroid as well as liver function and cholesterol and test for ‘pre-diabetes’. Study investigators will discuss results of testing with participants prior to departure and a written summary of all results will be sent as soon as all test results are processed. The hospital stay and testing are free to all participants, and we usually cover travel expense as well.
 
For more information please contact the study coordinator, Dr. Bondy at 1-888-437-4338 or Email: tsstudy@mail.nih.gov
More info:  http://www.clinicaltrials.gov/ct/show/NCT00006334?order=1