Turner Syndrome: Genetic Considerations

NCT07502586 | Recruiting

• 2 other identifiers: 10002558002558-CH
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Genetic

Keywords

Gynecology disorder

Outcome Measures

Primary Outcomes (1)

• Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.

  To create a database which will allow for evaluation of patient with turner syndrome and their family member

  One year

Secondary Outcomes (1)

• Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.

  One year

Study Arms (2)

Patient

Turner Syndrome

Family member

Family member of patient with Turner Syndrome

Eligibility Criteria

• Age: 1 Day - 110 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Turner syndrome patient and family member

You may qualify if:

• Turner syndrome diagnosis based on karyotype
• Any age
• Biological parent of Turner syndrome patient
• Relatives of Turner syndrome patient
• 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

You may not qualify if:

• \. Diagnosis other than Turner syndrome

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

Study Officials

• Veronica Gomez-Lobo, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Veronica Gomez-Lobo, M.D.

CONTACT

(301) 435-7567; veronica.gomez-lobo@nih.gov

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 30, 2026
• First Posted: March 31, 2026
• Study Start: March 24, 2026
• Primary Completion (Estimated): August 30, 2027
• Study Completion (Estimated): August 31, 2028
• Last Updated: August 3, 2026

Record last verified: 2026-07-30

Locations

US (1)