View clinical trials related to Klinefelter Syndrome.
Filter by:Azoospermia, the absence of sperm in the ejaculate, affects approximately 1% of males and 15% of infertile men. Non-obstructive azoospermia (NOA) accounts for 60% of azoospermic patients, who rely solely on testicular sperm extraction (TESE) surgery for sperm harvesting. While conventional TESE (cTESE) and microdissection TESE (mTESE) are preferred methods, the lack of predictive biomarkers for successful sperm retrieval (SR) renders treatment unnecessary for many NOA males. However, research suggests that anti-Mullerian hormone (AMH) and anogenital distance (AGD) may serve as predictors of positive SR at mTESE in NOA males. AGD, a marker of fetal androgen disruption and adult outcomes, may also assess male reproductive potential by predicting normal genital growth and sperm creation. A cross-sectional study found a positive correlation between AGD and total sperm count, concentration, and motility in infertile men aged 25-38, providing valuable prognostic insights for azoospermic men.
This is a longitudinal retrospective study for the evaluation of thyroid function and structure in patients with Klinefelter syndrome compared to healthy controls and patients affected by chronic lymphocytic thyroiditis.
It is well known that the frequency of cardiometabolic diseases are increased in patients with Klinefelter Syndrome. The triglyceride-glucose index (TyG index) is a simple surrogate marker of insulin resistance and is also associated with various cardiometabolic diseases. The aim of this study to investigate the TyG index levels and its relationship with insulin resistance and endothelial dysfunction in patients with KS.
This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development. The study is a total of three visits over 6 months with assessments of motor skills, body composition (muscle and fat), and hormone levels. This is a randomized, placebo-controlled study but all infants will receive testosterone treatment during the study period. The investigators will learn how testosterone treatment in infancy effects short term outcome measures on health and development.
The study design included six visits. During the first visit (visit 0), the subjects underwent physical examination(height, weight, body mass index (BMI), arm span, and upper segment measurement) and testicular ultrasound (US) for the calculation of testicular volume. At 0800 h of day 0, all subjects provided a basal blood sample immediately followed by a single intramuscular injection of hCG of 5000 IU. Further five visits were performed each of five following consecutive days after the hCG injection. A blood sample was taken at each visit after an overnight fast
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal abnormalities including biochemical screening tests and invasive procedures such as CVS or amniocentesis is available, regardless of age. Further, it is entirely up to the patient to decide whether or not she wishes to be screened for fetal chromosomal abnormalities without judgment from the physician. Noninvasive laboratory-developed tests (LDTs) that detect an abnormal amount of maternal and fetal DNA in an expectant mother's blood sample (known as circulating cell-free DNA) are now available. These LDTs have not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although LDTs to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test. To sample collection study will obtain whole blood specimens from pregnant subjects to be used for development of prenatal assays to assist in the screening for fetal genetic abnormalities, infectious and other diseases, and blood group typing through detection of circulating cell-free DNA extracted from maternal plasma.
This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver. This is important to know so that investigators understand how hormones and an extra X chromosome relate to diseases such as diabetes, extra weight gain, heart disease and liver diseases.
The haemostatic balance and neurocognitive capability of men with Klinefelter syndrome is compared to healthy controls by using specific biochemical assays for coagulation and fibrinolysis and a selection of neuropsychological tests and brain fMRI. Furthermore, the effect of gonadal status and any effects of long- or short-term testosterone treatment on the above mentioned parameters are investigated.
Klinefelter syndrome KS is caused by an additional X chromosome in males (47,XXY). Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is made during adolescence or adulthood in males who have small testes with hypergonadotropic hypogonadism and gynecomastia. Virtually all men with Klinefelter syndrome are infertile. Approximately one in 1,000 boys is born with an additional X chromosome—47,XXY, the karyotype that causes Klinefelter syndrome. This karyotype is detected at or before birth in 10 percent of affected boys, and it is found during adulthood in 25 percent of affected men. Almost all men with a 47,XXY karyotype will be infertile; Klinefelter syndrome accounts for 3 percent of male infertility. Klinefelter syndrome is common in infertile men with oligospermia or azoospermia (5 to 10 percent). Infertility in men with Klinefelter syndrome is caused by a precipitous drop in sperm count. If sperm are present, cryopreservation is useful for future family planning with intracytoplasmic sperm injection, and if not, testicular sperm extraction may be pursued. Although there have been multiple reports of successful fertilization by men with Klinefelter syndrome. Mesenchymal stem cell injection in testicular tubules and intra testicular artery using surgical microscope. The period for follow up last from three months to twelve months including semen analysis to detect sperm and hormonal profile .