View clinical trials related to Turner Syndrome.
Filter by:This study examines the clinical and genetic factors related to Turner syndrome, a disorder of the sex chromosomes. Humans usually have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes that determine our hereditary makeup. One pair of chromosomes is the sex chromosomes, designated X and Y. Females usually have two X chromosomes; however, patients with Turner syndrome have only a single X chromosome or one normal and one defective X or Y chromosome. This abnormality can cause medical problems such as short stature, premature ovarian failure and heart or kidney defects. Individuals with Turner syndrome have an increased risk of thyroid disorders, high blood pressure, diabetes mellitus, abnormal liver function, hearing loss and osteoporosis. This study will try to identify the genes responsible for the specific medical problems associated with the disorder. Females 10 years of age and older with X chromosome defects may be eligible for this 3- to 5- day inpatient study at the National Institutes of Health Clinical Center in Bethesda, Maryland. Participants will have a physical examination, body measurements (height, weight, hip and waist) and blood drawn for clinical and research purposes. Participants will have a comprehensive cardiovascular evaluation, including an electrocardiogram (ECG), 24 hour blood pressure monitoring, magnetic resonance imaging (MRI) of the heart and aorta, ultrasound imaging of the heart (cardiac echo) and expert consultation with the NIH Cardiology Service. Women 35 years of age and older may have a computerized tomography (CT) scan of the coronary arteries to investigate possible blockage of the heart blood supply. Risk for diabetes is investigated by studies of the body fat content and an oral glucose tolerance test. The risk for coronary artery disease is assessed by measurement of cholesterol and other known risk factors in the blood. Thyroid function and presence of antibodies to the thyroid gland are also evaluated by blood tests. Liver function is tested by measurement of products of liver metabolism in the blood and by a liver ultrasound. Ovary function is investigated by blood tests of estrogen and FSH levels and pelvic untrasound which visualizes the uterus. Bone structure and strength are evaluated by routine X-rays of the wrists and spine, and DEXA scan (a type of X-ray study that measures body fat, muscle and bone thickness). Adults will also have bone density of the spine and abdominal fat content measured by CT, which is more accurate than DEXA. Vitamin D levels are measured in blood tests.These are state of the art diagnostic tests which may uncover unsuspected anatomic problems such as abnormalities of the aorta or aortic valve which have serious clinical implications and would indicate the need for close medical follow-up, as well as uncover potential risk for development of diabetes or osteoporosis in the future, which would also indicate the need for changes in lifestyle or medical management. Study participants are invited to return for re-evaluation at 1-3 year intervals. A major goal of follow-up visits is to determine whether there is any enlargement of aortic diameter or impairment of cardiac function over time. Some patients may be asked to undergo a skin biopsy (removal of a small sample of skin tissue) to obtain more information about genetic make-up of cells. Parents of patients may be contacted (with the patient's permission) to provide a blood or saliva sample for genetic study to help understand how and why certain traits of Turner syndrome are expressed.
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce the hormones estrogen and androgen. Giving growth hormone may help girls with Turner's syndrome attain a more normal height. It is not yet known if growth hormone is more effective with or without oxandrolone for Turner's syndrome. PURPOSE: Randomized phase II trial to study the effectiveness of oxandrolone in girls who have growth hormone-treated Turner's syndrome.
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce estrogen. Giving estrogen is standard treatment for girls who have Turner's syndrome. Estrogen may be effective treatment for mental and social functioning problems experienced by girls with Turner's syndrome. PURPOSE: Clinical trial to study the effectiveness of long term estrogen therapy on mental and social functioning in girls who have Turner's syndrome.
Turners Syndrome is a genetic condition in females that is a result of abnormal chromosomes. Patients with Turner syndrome are typically short, have abnormal physical features, and lack the physical changes normally associated with puberty. In addition, some patients with Turner syndrome have low bone density (osteoporosis) and differences in learning abilities. This study will research the effects of steroid hormones on patients with Turner syndrome. It will look closely at how taking steroid hormones effects the patient's rate of growth as well as the patient's ability to learn. In addition the study will investigate how different hormones (androgen and estrogen) work when given together as a combination. All patients asked to participate in this study will receive growth hormone injections. However, half of the patients will receive an additional sex steroid hormone (oxandrolone) in the form of a pill. The other half of the patients will receive a placebo or "sugar pill". This will allow the researchers to determine if the combination of the hormones produces different results than growth hormone alone. The study will last approximately 2 years. After 2 years of research the patients may qualify for an additional 2 years of treatment. Patients may benefit directly from this research with increased growth and improved ability to learn.
The development of the brain in females is a result of a combination of factors. During puberty estrogen plays a role in influencing brain development. Cultural and environmental factors also play a role in the development of the brain. Female patients with Turner syndrome lack the ability to produce estrogen due to undeveloped ovaries. Therefore, Turner syndrome is the perfect condition to study how estrogen (or the lack of estrogen) influences a person's behavior and thinking. This study will compare cognitive differences (visual motor skills, visual-spatial, psychosocial behavior, and visual memory) of patients with Turner syndrome to normal patient controls. Researchers will use the Weschler Intelligence Scale for Children-Revised (WISC-R) along with other tests and scales to measure different aspects of the patient's cognitive ability. In addition the study will review patients with Turner syndrome who previously received estrogen replacement as infants and children in a related research study. Researchers hope to demonstrate that estrogen replacement will improve cognition and behavior in girls with Turner syndrome.
Turners Syndrome is a genetic condition in females that is a result of abnormal chromosomes. Girls with Turner syndrome are very short as children and as adults. Although their growth hormone secretion is almost always normal, giving injections of growth hormone to Turner syndrome girls may increase their rate of growth. In addition, most girls with Turner syndrome do not have normal ovaries. In normal girls the ovaries begin producing small amounts of the female sex hormone, estrogen at about 11 - 12 years of age. As girls grow older the level of estrogen increases. Estrogen is responsible for the changes in girls known as feminization. During feminization the hips grow wider, the breasts develop, there is an increase in the rate of growth, and eventually girls experience their first menstrual period. This study was designed to evaluate the effect of low dose estrogen, growth hormone, and the combination of low dose estrogen and growth hormone on adult height in girls with Turner syndrome. Patients will be entered into the study from ages 5 to 12 and will be randomly placed into one of four groups. 1. Group one will receive low dose estrogen 2. Group two will receive growth hormone 3. Group three will receive both low dose estrogen and growth hormone 4. Group four will receive a placebo "sugar pill" Once started, the treatment will continue until the patients approach their adult height, and growth slows to less than 1/2 inch over the preceding year. This usually occurs by the age of 15 or 16. Patients will be seen at the outpatient clinic every 6 months during the study and will receive a routine check-up with blood and urine tests, and hand/wrist X-rays to determine bone age. On patient's yearly visits they will have the density of bone measured in their spine and forearm.