Disorder of sexual differentiation

This study tests whether gonadal tissue removed from children with disorders of sex development (DSD) can be frozen and stored to preserve fertility. The tissue is already being removed for medical reasons, such as preventing cancer. Researchers will check the tissue for viable g…

This phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…

This study looks at two ways of taking progesterone for teens with Turner syndrome who are on hormone replacement therapy. One group takes progesterone for 12 days each month, the other takes it every day. Researchers will track bleeding patterns and how the teens feel, to see wh…

This study tests vosoritide, a protein that stimulates bone growth, in 30 children with Noonan syndrome who are not growing well despite growth hormone treatment. The goal is to see if vosoritide can safely increase their growth rate over six months. Participants will receive one…

This study is for children and young adults (up to age 30) with a rare type of soft tissue cancer called non-rhabdomyosarcoma. It tests whether adding the drugs pazopanib and selinexor to standard chemotherapy can improve outcomes. Participants receive treatment tailored to their…

This phase 3 study tests a new weekly growth hormone injection (inpegsomatropin) against an existing one (givopegsomatropin) in 84 girls with Turner syndrome who have short stature. The goal is to see which works better for increasing growth over 52 weeks. Participants are prepub…

This study investigates penile transplantation as a way to replace a severely damaged or missing penis with a donor organ, aiming to restore appearance, sensation, and sexual function. It includes men aged 18-69 who have lost their penis due to trauma, surgery, or birth defects. …

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 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

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 tracking 2,600 Chinese children with growth disorders who are receiving a long-acting growth hormone injection. The goal is to see how well it works and how safe it is over the long term in real-world settings. Researchers will measure changes in height and look for…

This study aims to find hidden genetic changes in people with disorders of sex development (DSD) whose standard genetic tests came back normal. Researchers will use a new technique called Optical Genome Mapping on a blood sample from 20 participants. The goal is to see if this me…

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 study compares two surgical methods for treating gynecomastia (enlarged male breast tissue): a newer endoscopic technique using small incisions versus traditional open surgery. Researchers will follow 100 men aged 18 to 60 for up to 12 months after surgery to see which metho…

This study tests whether a guided journaling program can reduce anxiety in parents of children with urogenital conditions like differences of sex development (DSD) or hypospadias. Twenty parents will complete five writing prompts over several weeks and then share their experience…

This study is observing 400 people aged 12 and older who have noncirrhotic portal hypertension (NCPH) or are at risk for it. NCPH is a liver condition that increases blood pressure in the liver's blood vessels without causing cirrhosis, and often has no early symptoms. Researcher…

This study aims to understand why people with Turner syndrome often lose their hearing. Researchers will look at genetic and epigenetic markers in 150 adults aged 18-60. Participants will have hearing, balance, blood, and imaging tests. The goal is to find new ways to treat or de…

This study looks at whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…

This study follows 650 people aged 8 to 99 with androgen insensitivity syndrome (AIS) to better understand their long-term health. Researchers will track hormones, bone density, heart health, metabolism, and tumor risk through regular check-ups and scans. No treatments are being …

This study aims to create a large genetic database of people with Turner syndrome, a rare condition where a person is missing all or part of an X chromosome. Researchers want to compare the genes of women with Turner syndrome who are fertile with those who are not. Up to 500 part…

This study is collecting medical data, blood, saliva, and tissue samples from up to 11,000 children, teens, and adults with known or suspected gynecologic conditions. The goal is to create a large database to better understand these conditions, including disorders of sex developm…

This study tracks the long-term safety and effectiveness of the growth hormone treatment Growtropin-II in children with short stature. It includes up to 5,000 children with growth hormone deficiency, idiopathic short stature, Turner syndrome, or those born small for gestational a…

This study interviews 24 men with prostate cancer to learn how they feel about breast-related side effects, such as gynecomastia (enlarged breasts), from treatment. The goal is to understand what matters most to patients when choosing therapies. Results will help design a future …

This study is collecting information from 520 children and teens in Italy with 46, XY DSD, a rare condition where a person's chromosomes don't match their physical sex development. Researchers will look at medical records to understand how common different features are and how th…

This study follows 93 women with Turner syndrome who wanted to become parents. Researchers will track how many succeeded through natural pregnancy, egg donation, or adoption. The goal is to understand the real-world chances of parenthood for these women.