Actively Recruiting
Turner Syndrome: Genetic Considerations
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-05-13
500
Participants Needed
1
Research Sites
127 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Turner Syndrome: Genetic Considerations
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Turner syndrome diagnosis based on karyotype
- Any age
- Biological parent of Turner syndrome patient
- Relatives of Turner syndrome patient
- Participants from protocol 20CH0126 who agree to referral to the 17I0122 NIAID study and consent to genetic data inclusion
You will not qualify if you...
- Diagnosis other than Turner syndrome
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
V
Veronica Gomez-Lobo, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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