Active clinical trials for "Gonadal Dysgenesis"

Primary objective is to assess the relationship between changes from serum biomarkers observed after 1 month of Saizen® therapy and change in height, weight after up to 5 years of treatment with Growth Hormone in children with Growth Hormone Deficiency (GHD) and Turner Syndrome (TS).

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.

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.

An observational study of 102 women with Turner syndrome followed for 6 years with a two-yearly examination including ECHO, MRI of the heart and 24 ambulatory blood pressure. It has been found that besides an significantly increased risk of congenital cardiac malformations, TS have an increased risk of developing cardiac disease including the life threatening condition of aortic dilatation and rupture. The aim of the study is to describe the cardiac conditions of TS, evaluate different methods of examination and identify possible risc factors.

The goal of this study is to compare the features of Turner syndrome in girls who are diagnosed before birth because of fetal concerns versus those who are diagnosed when their mother has an amniocentesis for another reason.

Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete loss of one of the X chromosomes that affects about one in every 2000 female babies born. These young patients described difficulties making friends, understanding others' emotions and intentions, and controlling their own emotions. Difficulties in these domains could led to social withdrawal, to reduced social skills and could have a significant impact on self esteem and mental health as well as on long-term academic and social functioning in affected individuals. The purpose of this project is to identify functional and dysfunctional cognitive and socio-cognitive abilities in these young patients which could account social difficulties described by some of them and their family. To this end, 35 girls with TS and 35 girls with isolated growth hormone deficiency and normal cerebral MRI will be recruited. Subjects will be 7 to 16 years and 11 months of age. Socio-cognitive and cognitive functions will be assessed with neuropsychological and experimental tasks. Questionnaires completed by patient, parents or teacher, will evaluate social and behavioral functioning.

Turner Syndrome (TS) is associated with osteopenia and osteoporosis. Reduced bone mineral density (BMD) and increased risk of fractures are present in many younger and middle-aged women with TS. The objective is therefore to describe longitudinal changes in BMD in TS. The study is an observational follow-up study. Examinations at baseline, after 5 and 10 years. Bone mineral density is measured by dual energy x-ray absorptiometry (DEXA) and bone turnover by bone markers. Main Outcome Measures: Bone mineral density (BMD; grams/ square centimetre) were measured at lumbar spine, hip and the non-dominant forearm.

In the literature, cases of thrombosis in the venous system have been described in girls and women with Turner syndrome. By screening a group of women with Turner syndrome, the researchers wish to find out if this condition is more frequent in this patient population.

Turner syndrome is a congenital complete or partial lack one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general. Our study aim is: Using MRI to further characterize and find risk factors leading to aortic dilation. Using MRI to assess the degree of aortic distensibility. Using Computed tomography x-ray scanning of the heart and coronary arteries to characterize the prevalence and degree of ischemic heart disease and coronary anomalies. Using pressure sensitive ultrasound (applanation tonometry) to assess the degree of aortic stiffness when compared to controls using end points as Pulse Wave Velocity, Augmentation Index and Central Pulse Pressure.