TURNER SYNDROME
Source: turners.nichd.nih.gov
Topic: Turner syndrome
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Sort Desciption: This study aims for an in depth and comprehensive characterization of clinical features of Turner syndrome and identification of the specific genes linked to each feature. ...
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This study aims for an in depth and comprehensive characterization of clinical features of Turner syndrome and identification of the specific genes linked to each feature. This approach is designed to benefit those with Turner syndrome by improved diagnosis and recognition of potential and existing medical problems, resulting in improved preventative and therapeutic medical care. Adult women with Turners have a significantly higher risk for developing high blood pressure, diabetes, and osteoporosis than other women. We hope to identify the specific genes that cause many of these medical problems. By learning more about the genes that cause this disorder, we hope to 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 medical and scientific information on the diagnosis and its implications. This protocol will provide TS participants with opportunities to ask questions and discuss their diagnosis and medical/social issues with the physicians and research nurses involved in the study. The results of clinical studies will be provided in written form to study subjects and to their physicians. This study requires a 5 day inpatient stay (4 days for pediatrics) at the NIH hospital in Bethesda, MD USA. Testing includes: Physical exam Body measurements Blood and urine sample collections Thorough evaluation of the heart, ...
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