Turner Syndrome: Genetic Considerations

Conditions

• Genetic

Eligibility Criteria

Sex

ALL

Age

1 Day - 110 Years

Healthy Volunteers

Not accepted

Study Details

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. 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.

Key Dates

Start date

Mar 24, 2026

Status verified

May 2026

Primary completion

Aug 30, 2027

Completion

Aug 31, 2028

Study Design

Enrollment

500 participants (estimated)

Arms

• Arm: Patient
  Turner Syndrome
• Arm: Family member
  Family member of patient with Turner Syndrome

Primary Outcome Measure

Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition. [ Time Frame: One year ]

Central Contacts

• Veronica Gomez-Lobo, M.D.
  (301) 435-7567
  [email protected]

Locations (1)

Find similar trials in Bethesda, MD