View clinical trials related to Turner Syndrome.
Filter by:This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from women pregnant with a multiple gestation who were at increased risk for fetal aneuploidy.
The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes. The most common of these syndromes is Marfan Syndrome (MFS), but several other recognized aortopathy syndromes are well characterized. The investigators propose the use of a simple blood test, from which miRNA profiles can be measured in individuals with aortopathy syndromes to be compared with miRNAs observed in a control population that has no known predisposition for aortic disease. The investigators hypothesize that microRNA profiles in individuals with Marfan syndrome, and related disorders, will be distinct from those seen in a control group. The investigators predict that up- or down-regulation of certain miRNAs will correlate with the presence and severity of aortic aneurysm, responses to medical therapy, and ultimately could be used to determine when an individual may be at risk of dissection.
Background: - Women with Primary Ovarian Insufficiency (POI) have ovaries that stopped working normally before they turned 40. This usually causes infertility, which challenges many women with the condition to ask themselves, Why me? This kind of question is about our human existence, or what some call an existential view of life. Researchers have learned that spirituality and finding existential purpose help women with POI. So does meeting other women with the same problem. Researchers want to find new ways to help women with POI cope with it. Objective: - To develop and test a practice for women with POI called Deep Reading. Eligibility: - Women enrolled in another POI protocol, who can read and speak English. Design: - Participants will first have an individual visit or phone call. They will describe spiritual or existential practices they have done. They will also answer questions about spiritual and existential health and daily functioning. - They will join a group for 6 weekly sessions. Each session will be 60 90 minutes. - In each group session, a coordinator will teach participants about Deep Reading. They will read a piece of up to 1000 words. They will think about the piece and then talk about it with the group. - Between sessions, participants will practice Deep Reading at least once for 15 20 minutes on their own. They will check in once with another group member. They will keep a log of these activities. - After session 3, participants will answer questions online about wellbeing and satisfaction. - At session 6, participants will answer questions online about wellbeing. They will answer questions about their overall experience. - One and 3 months after the sessions end, participants will again complete online wellbeing questionnaires and report on their continued practice of Deep Reading.
Turner Syndrome is a common genetic disorder. Seventy percent of adults with Turner Syndrome have abnormalities in glucose metabolism which can lead to diabetes. The current screening guidelines for diabetes in Turner Syndrome are not specific and involve a fasting blood sugar once a year. The objective of this study is to determine if there are abnormalities in glucose metabolism and pancreatic function in young girls with Turner Syndrome. The study hypothesis is that pancreatic dysfunction (specifically of the beta cells that make insulin) is more prevalent in girls with Turner Syndrome compared to healthy controls.
With this study, in which the incidence of pregnancy in classic galactosemia patients is studied, we aim to provide new insights to improve counselling. Our hypothesis is that the chance that a galactosemic woman with POI becomes pregnant is higher than the 5-10% that has been reported for women with POI due to other causes. Chance of spontaneous pregnancy will be evaluated through semi standardized interview in women with classic galactosemia aged 18 years or older. During the interview, questions will be asked regarding fertility and pregnancy.
The study is performed to collect long-term data on the treatment adherence and patient's acceptability when Zomacton®10 mg is administered with the Zomajet® Vision X device in patients with a growth hormone deficiency or Turner's syndrome.
Premature Ovarian Insufficiency (POI), first described by Albright in 1942, is defined as an increase in Follicle Stimulating Hormone (FSH), an insufficiency of the ovarian function leading to an early menopause (<40 years of age).Today, only 35% of POI's etiology can be explained. Causes enlightening POI may be enumerated as follows, according to their frequency: genetic mutations, autoimmune defects and abnormalities detected on the X chromosome.The purpose of the study is to determine the frequency of the genetic abnormalities and polymorphisms described above in the POI Turkish population
A study demonstrates the non-inferiority of DA-3002 when compared with Genotropin®.
The study aim is: 1. To examine aortic tissue by light microscopy 2. To examine aortic tissue by electron microscopy 3. To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue. 4. To examine aortic tissue using biochemistry including proteomics. 5. To establish the karyotype of fibroblasts with standard chromosome examination on 10 meta-phases as well as by fluorescent in situ hybridization (FISH) with probes covering the X and Y chromosome. Using the latter 200 meta-phases will be examined. 30 controls who did not die from aortic dissection or dilation will be recruited from The Department of Forensic Medicine at Aarhus University Hospital. The investigators will subject samples of aortic tissue from women undergoing prophylactic aortic surgery due to either Marfan syndrome or bicuspid aortic valve to the same panel of examinations (except karyotyping). Lastly the investigators will compare the results from the three groups (Turner syndrome, Marfan syndrome and Bicuspid aortic valve).
This trial is conducted in Europe. The aim of the trial is to evaluate growth response of two somatropin dose regimens in girls with Turner Syndrome.