TURNER SYNDROME

This study tests if a once-weekly growth hormone injection (lonapegsomatropin) works as well as a daily one (somatropin) for helping children with short stature grow taller. About 186 children with Turner syndrome, SHOX deficiency, short stature at birth, or idiopathic short stat…

This study tests three doses of vosoritide in 30 children with Noonan syndrome who are still short despite growth hormone treatment. The main goal is to see if vosoritide can speed up growth over 6 months. Researchers will also monitor safety and long-term effects on height.

This study looks at how taking progesterone continuously versus in a cycle affects menstrual bleeding in teenagers with Turner Syndrome who have primary ovarian insufficiency. About 40 participants will track their bleeding and complete questionnaires. The goal is to find which s…

This study aims to find genetic and epigenetic patterns linked to hearing loss in people with Turner syndrome. Researchers will compare 150 adults with and without hearing problems using hearing tests, blood tests, and scans. The goal is to understand why hearing loss happens, wh…

This study follows 400 people aged 12 and older who have or are at risk for noncirrhotic portal hypertension (NCPH), a liver condition that raises blood pressure in the liver without typical warning signs. Researchers will track participants over many years using blood tests, ima…

This study looks at how many women with Turner Syndrome who want to become parents actually succeed. Researchers will track pregnancies (natural or from egg donation) and adoptions among 93 women treated at a French hospital. The goal is to understand the success rate of their pa…

This study looks at why some people with conditions like Turner Syndrome or galactosemia have trouble getting pregnant, and whether freezing their ovarian tissue can help them have a child in the future. Up to 200 participants aged 2 to 35 will have a small piece of ovarian tissu…