Gonosome anomaly

This study tests whether adjusting sex hormone levels with aromatase inhibitors can improve metabolic health and sperm production in men with Klinefelter syndrome. It also examines if adding semaglutide (a weight-loss drug) or hCG provides extra benefits. The trial involves 150 m…

This study tests a new drug called ION440 in 48 people with MECP2 duplication syndrome, a rare genetic condition that causes intellectual disability and seizures. The drug is given via a spinal injection to see if it is safe and how the body processes it. Some participants will r…

This Stanford study tests whether injecting a man's own platelet-rich plasma (PRP) into his testicles can help produce sperm. Ten men with nonobstructive azoospermia who previously failed sperm retrieval will receive the injection. Three months later, doctors will check for sperm…

This study offers boys aged 0-17 the chance to freeze testicular tissue before undergoing treatments like chemotherapy or radiation that could cause permanent infertility. The tissue is stored for potential future use to achieve pregnancy. Researchers will track whether transplan…

This study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…

This trial tests whether a 10-session group program called Social Management Training can improve mental health, executive function, and social skills in adults aged 16 to 69 who have sex chromosome aneuploidies (extra or missing sex chromosomes). Participants complete questionna…

This international online study collects medical, behavioral, and developmental information from people with rare genetic changes that are linked to autism and other neurodevelopmental disorders. By partnering with families, researchers aim to build a detailed database to improve…

This study investigates whether a specific mitochondrial DNA variant (MT-ND1 m.3700G>A) is associated with severe male infertility, specifically conditions where sperm production is absent or extremely low. Researchers analyzed existing medical records and biological samples from…