Turner Syndrome: Genetic Considerations

Background: Turner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Many women with TS never have periods and cannot conceive; however, some women have normal ovaries (egg cells). Researchers want to learn more about why some women with TS are fertile and others are not. To do this, they need to be able to compare the genes of many women who have TS. Objective: To create a genetic database of people with TS. Eligibility: People of any age with TS currently enrolled, or interested in enrolling in protocol 20-CH-0126. Biological parents and other relatives are also needed. Design: Participants who agree to join this study will be asked to enroll in a second study; that study is called "NIAID Centralized Sequencing Protocol" (Protocol No. 17I0122). Participants will have 1 study visit. They may fill out a survey or do an interview. They will provide blood, saliva, or other tissue samples. Those samples will be used for genetic tests. The visit will take 1 hour. The information collected in those tests will be collected for use in the database created as part of this study.

NCT Number	NCT07502586
Lead Sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions	Genetic
Enrollment	500 participants
Start Date	2026-03-24
Primary Completion	2027-08-30 (estimated)
Study Completion	2028-08-31 (estimated)
Updated on ClinicalTrials.gov	2026-08-06