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. 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.

Study Overview

• Status: Recruiting
• Conditions: Genetic

Detailed Description

Study Description:

This is a supplemental study which proposes to refer Turner syndrome patients within other NICHD protocols to NIAID protocol 17I0122 for WGS to create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants associated with co-occurring conditions.

Objectives:

• Primary Objective: Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.
• Secondary Objective: Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.
• Tertiary Objectives: Generate and analyze evidence regarding genetic underpinnings and possible variants related to the co-occurring associated conditions in TS, such as von Willebrand Disease, hypertension, anomalies of heart and kidney, and autoimmune conditions.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Veronica Gomez-Lobo, M.D.; Phone Number: (301) 435-7567; Email: veronica.gomez-lobo@nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: NIH Clinical Center Office of Patient Recruitment (OPR); Phone Number: TTY dial 711 800-411-1222; Email: ccopr@nih.gov

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Turner syndrome patient and family member

Description

• 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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Patient; Turner Syndrome
Family member; Family member of patient with Turner Syndrome

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.	To create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants	One year

Collaborators and Investigators

• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Investigators: Principal Investigator: Veronica Gomez-Lobo, M.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): March 24, 2026
• Primary Completion (Estimated): August 30, 2027
• Study Completion (Estimated): August 31, 2028

Study Registration Dates

• First Submitted: March 30, 2026
• First Submitted That Met QC Criteria: March 30, 2026
• First Posted (Actual): March 31, 2026

Study Record Updates

• Last Update Posted (Actual): May 13, 2026
• Last Update Submitted That Met QC Criteria: May 12, 2026
• Last Verified: May 10, 2026

More Information

Terms related to this study

• Keywords: Gynecology disorder
• Other Study ID Numbers: 10002558; 002558-CH

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No