Active clinical trials for "Gonadal Dysgenesis"

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.

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.

The study attempts to evaluate if the way of administering estrogen, the principal female hormone, via patches or orally, affects the way estrogen works in girls with Turner Syndrome. These are girls who are very short and whose ovaries do not work. We will examine changes bone, protein and fat metabolism under the influence of estrogen delivered by a patch trough the skin vs estrogen taken orally. These studies are conducted while the girls are taking GH therapy.

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.

A study demonstrates the non-inferiority of DA-3002 when compared with Genotropin®.

Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and ovarian failure with infertility. Other anomalies are inconstant: morphological characteristics of varying intensity, associated malformations, and increased risk of acquired diseases ... The prognosis of patients reaching the Turner Syndrome is linked to cardiovascular complications (congenital heart disease, dilatation of the ascending aorta with risk of dissection or rupture of aneurysm), causing early mortality with reduction of life expectancy of at least 10 years. For these reasons, screening for heart disease and dilatation of the ascending aorta is established and is intended to prevent the complications associated with medical treatment and / or surgery to increase life expectancy and reduce the co-morbidities. On the vascular level, the recommendations other than those relating to the monitoring of the diameter of the ascending aorta include research of renal artery stenosis by doppler ultrasound if the patient is hypertensive and looking for lymphedema. However, other arterial lesions were described in the literature, outside of the aneurysm of the ascending aorta. These peripheral arterial lesions can also be life and / or functional prognosis of the patient. Ascending aorta dilation seems not to be exclusive in Turner syndrome. In addition, specific vascular lesions outside the affected artery are described: hepatic cirrhosis by vascular depletion, lymphedema and varicose veins. The prevalence of venous or lymphatic disease is unknown. A single-center review of 9 cases of patients followed at the University Hospital of Strasbourg showed the presence of vascular lesions discovered incidentally during assessments performed for reasons other than cardiovascular screening: cystic lymphangioma, internal carotid aneurysm, agenesis of the inferior vena cava, early varicose veins, embryonic cerebral artery, etc ... None of these patients showed any dilatation of the ascending aorta or heart disease. Peripheral vascular abnormalities in this patient group are exclusive. In this study, we seek to demonstrate that arterial disease in Turner syndrome involve the entire arterial territory and is not confined to the ascending aorta. Screening for arterial lesions should be performed on the entire arterial vascular tree and regularly in the course of time, especially as the presence of cardiovascular risk factors increases with the age of these patients. The venous and lymphatic vascular damage in the literature and in our series of cases in University Hospital of Strasbourg description should also lead to the detection of these lesions. These vascular complications can be alone responsible for the reduction in life expectancy or responsible for serious morbidity. Improved screening of associated vascular lesions is necessary to enable the best prevention of cardiovascular complications. It is also to establish the prevalence of vascular anomalies, whether arterial, venous or lymphatic, to better understand the disease and its management. By collecting systematically karyotype leading to diagnosis, it may be possible to make a link between the genetic defect and heart or vascular disease.

This study evaluates approximate number sense (ANS) in children, adolescents, and adult women with Turner syndrome compared to age-matched healthy peers. One primary aim of this project is to assess the effectiveness of an online ANS training tool in enhancing complex mathematics ability. Participants will undergo weekly training sessions in their own home. Half of the participants will complete 2 training sessions a week for 8 weeks, and the second half will complete 1 training session for 8 weeks.

The purpose of this research study is to learn about brain development in very young girls with Turner syndrome (TS) and the effect that growth hormone (GH) therapy has on early brain development.

Growth hormone treatment improves body fat distribution but also causes insulin resistance. Scientists have recently linked insulin resistance with special stores of fat in the muscles, which can be measured by magnetic resonance imaging (MRI). The researchers hypothesize that growth hormone will paradoxically reverse the linkage between muscle fat stores and insulin resistance. To assess this association and to investigate the cause(s), the researchers will measure muscle fat stores during growth hormone treatment. Other parameters linked to insulin resistance (glucose tolerance, blood markers, and body composition) will also be assessed. This study may lead to improved strategies for monitoring growth hormone therapy.

Assessment of long-term effectiveness of ZOMACTON in treatment of Growth Hormone Deficiency or growth retardation due to Ullrich-Turner Syndrome and assessment of compliance and adherence, optionally with the aid of an electronic app or patient diary.