View clinical trials related to Gonadal Dysgenesis.
Filter by:Premature ovarian insufficiency (POI) is a clinical syndrome defined by loss of ovarian activity before the age of 40 years. The POI guideline development group of ESHRE recommends the following diagnostic criteria: oligo/ amenorrhea for at least 4 months and an elevated follicle stimulating hormone (FSH) level ＞25 mIU/mL on two occasion ＞4 weeks apart. Some clinicians and researchers proposed that POI was a progressive disease and there were three stages of POI: occult POI, biochemical POI, overt POI. However, there is lack of reliable indicators to assess the different stages of POI. The present study is to explore the change of menstruation condition, basal follicle-stimulating hormone, anti-müllerian hormone and antral follicle count during the development of POI, and whether those marks can assess the different stages of POI.
The study aims to establishing the diagnosis standard of POI and analyzing the risk factors in Chinese women.
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.
This study evaluates the effect of a specific, multidisciplinary and personalized rehabilitation program compared to usual care, on motor control and functional disability in patients with neuralgic amyotrophy. Half of the participants will start with the 17-week specific rehabilitation program while the other half will first continue their usual care for 17 weeks, after which they will also receive the 17-week specific rehabilitation program.
Rationale: Infertility due is a major concern for girls with Turner syndrome (TS) and their parents. Physicians are often asked about possible options to preserve their fertility. However, despite some experimental case reports, clear evidence for fertility preservation in these girls is lacking and many questions remain. Without evidence on the effectiveness of fertility preservation it cannot routinely be offered to girls with TS. Objective: To investigate the occurrence of live birth in women with TS after ovarian tissue cryopreservation in childhood followed by auto transplantation in adulthood. Study design: A national multicentre exploratory intervention study Study population: Girls diagnosed with Turner Syndrome, aged 2-18 years. Intervention: Ovarian tissue cryopreservation in childhood followed by auto transplantation in adulthood. In order to obtain the ovarian tissue for cryopreservation, all girls must undergo a laparoscopy under general anaesthesia which will be performed in academic/university clinics with paediatric surgery. During the laparoscopic intervention, a unilateral oophorectomy will be performed, thereby leaving the other ovary intact for hormone production, ovulation, spontaneous pregnancies and as an auto transplantation site for cryopreserved-thawed ovarian cortical tissue later on. Furthermore, a small sample of the ovarian cortex will be used to assess the oocyte quality and genetics (e.g. the presence of germ line mosaicism). Oocytes will be karyotyped by using Fluorescence in situ hybridization (FISH). Karyotypic and hormonal data will be collected once at the yearly clinical visit at the paediatric-endocrinologist. Therefore, a buccal swab and one extra blood sample will be taken and evaluated during the routine laboratory evaluation. In the future, auto transplantation of frozen-thawed ovarian cortex strips will be performed.
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.
This study aims to explore the optimal dose of pegylated recombinant human growth hormone (PEG-rhGH) injection to treat children of Turner syndrome (TS), preliminarily evaluate its safety and efficacy and provide scientific and reliable evidence for the medication dosage in Phase 3 clinical trial.
The investigators will conduct genetic comparisons between Turner Syndrome (TS) patients with and without Bicuspid Aortic Valve (BAV) to identify causative agents of BAV in people with TS. The investigators will correlate the patterns and prevalence of structural heart defects in TS women with emerging molecular data to identify patients who are at high risk for cardiovascular complications
This study plans to learn more about how the energy system works in girls with Turner syndrome. This is important to know so that the investigators understand how Turner syndrome relates to diseases such as diabetes, extra weight gain, heart disease and liver disease, and how this impacts day to day life.
The OLIVA device will enable to perform shallow slashes on the ovarian cortex in patients undergoing oophorectomy. Prior to the resection of the ovary from the pedicle we will perform 5 parallel slashes 3 cm long. following oophorectomy investigation by the pathologist as to the depth of cuts and proximity to blood vessels and later.