Genetic factors in Turner syndrome
Turner Syndrome: Genetic Considerations
This project will collect whole-genome samples from people with Turner syndrome and their family members to try to find genes linked to fertility and other health problems.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 1 Day to 110 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT07502586 on ClinicalTrials.gov |
What this trial studies
This observational project will collect whole-genome sequencing (WGS) data from people with Turner syndrome and consenting family members to create a centralized genetic database. Participants typically complete one visit for a survey or interview and provide blood, saliva, or other tissue samples, with referral into the NIAID Centralized Sequencing Protocol (17I0122) for sequencing. Researchers will analyze WGS data to look for candidate gene variants linked to meiosis, fertility, and spermatogenesis, and for variants associated with co-occurring conditions such as heart, kidney, bleeding, and autoimmune disorders. The database is intended to enable comparisons across many individuals with Turner syndrome to support future genetic discovery and hypothesis-driven research.
Who should consider this trial
Good fit: Anyone with a karyotype-confirmed diagnosis of Turner syndrome and biological parents or relatives willing to provide consent and samples are eligible.
Not a fit: People without Turner syndrome or those unwilling to provide genetic samples or share their data will not benefit, and individual participants may not receive direct clinical benefit because the work is focused on building a research database.
Why it matters
Potential benefit: If successful, this database could reveal genetic reasons for fertility differences and related health risks in Turner syndrome, improving genetic counseling and guiding future research and potential treatments.
How similar studies have performed: Smaller genetic studies have identified candidate variants in Turner syndrome, but large-scale whole-genome sequencing databases focused on fertility and related conditions are relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: 1. Turner syndrome diagnosis based on karyotype 2. Any age 3. Biological parent of Turner syndrome patient 4. Relatives of Turner syndrome patient 5. The subject from protocol 20CH0126 will enroll in this study only when they agree to be referred to the 17I0122 NIAID study. They can withdraw participation in the 17I0122 study if they do not want to have their genetic data in this database EXCLUSION CRITERIA: 1\. Diagnosis other than Turner syndrome
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Veronica Gomez-Lobo, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Veronica Gomez-Lobo, M.D.
- Email: veronica.gomez-lobo@nih.gov
- Phone: (301) 435-7567
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.