View clinical trials related to Turner Syndrome.
Filter by:The purpose of this study is to examine whether a larger dosage of estrogen than the one used today will secure the development of a normal sized uterus and increase the strength of the bones in girls and young women with Turner syndrome. The purpose is also to evaluate whether aortic dilatation is present in this group of patients, and if the estrogen dosage will influence the emotional well-being and self-esteem of the patients.
This study is a multicenter, open-label, observational, postmarketing surveillance study of Genentech growth hormone (GH) products in the treatment of girls with Turner syndrome in the United States and Canada.
This study is a multicenter, open-label, postmarketing surveillance study. The substudy will collect information on BMD in adolescents and young adults with GHD or Turner syndrome who are completing GH treatment for statural indications.
The purposes of this study are to learn whether treatment with an androgen type hormone will improve the visual-spatial problems associated with Turner syndrome, and to evaluate the effect growth hormone, with and without androgen, has on growth.
This study will evaluate the effects of hormone replacement therapy on patients with Turner syndrome (TS)-a genetic disorder in females in which part or all of one X chromosome is missing. Most girls and women with TS have underdeveloped ovaries-the female reproductive organs that produce the female sex hormones estrogen and progesterone, and smaller amounts of the male sex hormone, testosterone. These hormones affect muscle and bone strength, sex drive, energy, and an overall sense of well being. Estrogen may also play a role in memory and mood and have a protective effect against heart disease. Women with TS have a much higher risk of developing osteoporosis (loss of bone density), high blood pressure, high cholesterol and diabetes than women without this disorder. Girls and women with Turner syndrome between the ages of 14 and 50 years may be eligible for this 2-year study. Three months before beginning treatment, all patients will wear an estrogen patch and take a progesterone tablet daily for 10 days each month. They will then be randomly assigned to one of two treatment groups to compare the effects of estrogen alone with estrogen plus testosterone on bone strength, muscle and fat mass and psychosocial well being. Both groups will wear an estrogen patch and take oral progesterone. One group will also wear a testosterone patch while the other group will wear a placebo patch (a patch that does not contain any testosterone). Neither study participants nor the doctors will know who is getting the testosterone until the study is complete. Patients will undergo the following procedures before beginning treatment and at 6, 12 and 24 months after starting treatment: - Physical examination. - DEXA scans (dual energy X-ray absorptiometry) to measure body composition and bone thickness. Low radiation X-rays scan the whole body to measure fat, muscle and bone mineral content.. - Magnetic resonance imaging (MRI) scan of the abdomen to measure the amount of fat around the internal organs. The patient lies on a stretcher in a large tube surrounded by a magnetic field during the scanning. The procedure uses a strong magnet and radio waves to produce the images. - Heel ultrasound to measure bone thickness. The heel is placed in a chamber and sound waves pass through it to produce images. - Oral glucose tolerance test (OGTT) for diabetes and problems with carbohydrate metabolism. The patient drinks a sugary substance. A small amount of blood is drawn before taking the drink and four times afterwards. - Blood and urine tests to measure blood counts, liver and kidney function, ovarian hormones, growth factors, thyroid function, blood lipids, bone strength markers, and to test for pregnancy. - Blood pressure measurements. - Psychological testing for the effect of treatment on mood, self-esteem, quality of life, social shyness, anxiety and sexual function. - Neurocognitive tests (at first inpatient visit and 1 and 2 years after starting treatment) to measure nonverbal memory and visual-perceptual abilities. During the hospital admissions, patients will be given a "metabolic diet" that contains specific amounts of salt and carbohydrates to ensure accurate blood pressure and sugar metabolism measurements. Patients will keep a record of their menstrual periods and physical activity throughout the treatment period.
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.