Turner syndrome

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 compares two common ovarian stimulation protocols used during IVF in women with polycystic ovary syndrome (PCOS). The PPOS protocol uses a progestin hormone to suppress ovulation, while the antagonist protocol uses a different drug. Researchers will track which method …

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 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 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 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 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.