Detecting Y Chromosome Using Free Circulating DNA in Females With Turner Syndrome Aged 2 to 74 Years

What this Trial Is About

Turner syndrome is a condition affecting about 1 in 2500 female newborns, marked by short stature, gonadal problems, and bone issues. It is caused by changes in the X chromosome and can lead to complications including gonadoblastoma, a type of cancer. This risk is higher if Y chromosome material is present, but detecting this material is challenging due to its mosaic presence in tissues. Researchers are studying a new test using free circulating DNA cfDNA in blood to detect Y chromosome sequences in patients with Turner syndrome. The study will use a cfDNA-based test to look for Y chromosome sequences in 50 patients confirmed to have Turner syndrome by karyotype. The tests ability to detect mosaic Y chromosome material will be measured and compared to the standard fluorescence in situ hybridization FISH method used routinely. This comparison will help determine if the cfDNA test offers improved detection. Participants will provide blood samples for cfDNA testing, and results will be compared with FISH analysis over up to 30 months. Researchers will track the proportion of patients with detected Y chromosome material and assess the mosaic detection threshold. The study is led by the University Hospital in Strasbourg, France, and includes patients aged 2 to 74 years. Participation involves genetic testing and follow-up assessments to evaluate the tests clinical usefulness.

Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome