View clinical trials related to Gonadal Dysgenesis.
Filter by: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.
This trial is conducted in Europe. The aim of the trial is to induce normal pubertal development in girls with Turner Syndrome in accordance with that of their peers and their individual state psychosocial maturation.
Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and molecular biologists) to characterize social cognition in adolescents with Turner syndrome (TS). Inclusion criteria: - Turner syndrome with homogeneous 45,X karyotype. - Age between 8 and 18 years. - Somatic state compatible with the evaluation. - Functional language and IQ ≥ 80 for the transfer tests - Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection). - Affiliation to Social Security (beneficiary or assignee). The primary endpoint will be the overall score to the AQ (Autism Quotient) questionnaire and to the SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population. For patients with scores above the threshold for SRS or QA validation of a possible diagnosis of autism spectrum disorders will be performed with commonly used diagnostic tools (ADIR (Lord et al, 1994), ADOS-G (Lord et al, 1999) and diagnostic criteria of DSM IV-TR). Secondary criteria will include the results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions). A DNA sample will be collected from the patient and her mother. The observation period is 2 days for the patient and about 1 hour for the mother. The total duration of the study is 3 years.
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.
The human genetic material consists of 46 chromosomes of which two are sex chromosomes. The sex-chromosome from the mother is the X and from the father the Y-chromosome. Hence a male consist of one Y and one X chromosome and a female of 2 X-chromosomes. Alterations in the number of sex-chromosomes and in particular the X-chromosome is fundamental to the development of numerous syndromes such as Turner syndrome (45,X), Klinefelter syndrome (47,XXY), triple X syndrome (47,XXX) and double Y syndrome (47,XYY). Despite the obvious association between the X-chromosome and disease only one gene has been shown to be of significance, namely the short stature homeobox gene (SHOX). Turner syndrome is the most well characterized and the typical diseases affecting the syndrome are: - An Increased risk of diseases where one's own immune system reacts against one's own body (autoimmune diseases) and where the cause of this is not known; For example diabetes and hypothyroidism. - Increased risk of abortion and death in uteri - Underdeveloped ovaries with the inability to produce sex hormones and being infertile. - Congenital malformations of the major arteries and the heart of unknown origin. - Alterations in the development of the brain, especially with respect to the social and cognitive dimensions. - Increased incidence obesity, hypertension, diabetes and osteoporosis. In healthy women with to normal X-chromosomes, the one of the X-chromosomes is switched off (silenced). The X-chromosome which is silenced varies from cell to cell. The silencing is controlled by a part of the X-chromosome designated XIC (X-inactivation center). The inactivation/silencing of the X-chromosome is initiated by a gene named Xist-gene (the X inactivation specific transcript).This gene encodes specific structures so called lincRNAs (long intervening specific transcripts) which are very similar to our genetic material (DNA) but which is not coding for proteins. The final result is that women are X-chromosome mosaics with one X-chromosome from the mother and the other X from the father. However, numerous genes on the X-chromosome escape this silencing process by an unknown mechanism. Approximately two third of the genes are silenced, 15 % avoid silencing and 20 percent are silenced or escape depending on the tissue of origin. The aforementioned long non-protein-coding parts of our genetic material (LincRNAs) are abundant and produced in large quantities but their wole as respect to health and disease need further clarification. Studies indicate that these LincRNAs interact with the protein coding part of our genetic material modifying which genes are translated into proteins and which are not. During this re-modelling there is left foot prints on the genetic material which can indicate if it is a modification that results in silencing or translation of the gene. It is possible to map these foot prints along the entire X-chromosome using molecular techniques like ChIP (Chromatin immunoprecipitation) and ChIP-seq (deep sequencing). The understanding achieved so far as to the interplay between our genetic material and disease has arisen from genetic syndromes which as the X-chromosome syndromes are relatively frequent and show clear manifestations of disease giving the researcher a possibility to identify genetic material linked to the disease. Turner and Klinefelter syndrome are, as the remaining sex chromosome syndromes, excellent human disease models and can as such help to elaborate on processes contributing to the development of diseases like diabetes, hypothyroidism, main artery dilation and ischemic heart disease. The purpose of the study is to: 1. Define the changes in the non-coding part of the X-chromosome. 2. Identify the transcriptome (non-coding part of the X-chromosome)as respect to the RNA generated from the X-chromosome. 3. Identify changes in the coding and non-coding parts of the X-chromosome which are specific in relation to Turner syndrome and which can explain the diseases seen in Turner syndrome. 4. Study tissue affected by disease in order to look for changes in the X-chromosome with respect to both the coding and non-coding part of the chromosome. 6. Determine if certain genes escape X-chromosome silencing and to establish if this is associated with the parent of origin.
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.
This is a prospective, multi‐center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in 'all-risk' pregnancies.
The purpose of this study is to evaluate the long-term safety and effectiveness of growth hormone (Eutropin Inj./Eutropin plus Inj.) treatment with GHD (Growth Hormone Deficiency), TS (Turner Syndrome),CRF (Chronic Renal Failure), SGA (Small for Gestational Age), and ISS (Idiopathic Short Stature).
This study is conducted in Japan. The aim of this study is to collect information about the efficacy and safety of Norditropin® (somatropin) in the long-term treatment of short stature with GHD (Growth Hormone Deficiency) where epiphysial discs are not closed and short stature with Turner Syndrome where epiphysial discs are not closed.