Turner Syndrome Research
and the Turner Syndrome Research Registry (TSRR)
TSSUS facilitates research; it's part of our mission. Find information about how you can support TS research, whether you are a researcher or someone with TS or a guardian of someone with TS. Find information about the TS Research Registry as well as current and nonactive TS studies.
Our research partners need your help
The TSRR (TS Research Registry) was created to support patient-powered research. Three recent changes have been made to better align the TSRR with this goal. These changes include:
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a partnership between UTHealth Houston and TSSUS
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freely usable, shareable and modifiable software called REDCap that allows data to easily be used across institutions
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a survey system that protects participant privacy while still allowing researchers to connect with participants.
This system provides a place for future researchers to access stored data and can be used for a range of clinical studies, which is important for researching rare diseases.
TSRR data has already inspired several projects that were prioritized by TS community stakeholders and jointly developed with the TSSUS Scientific Advisory Board.
We help you support TS research
and
Critical TS care questions remain unanswered because we need more collective information about those with Turner syndrome.
The Turner Syndrome Research Registry is an online collection of information submitted and controlled by participants. If you have TS, we encourage you to join or learn more about it. Parents or legal guardians may register children as well.
Read common questions and answers about the registry here or below
We support TS researchers
Descripción general del registro de investigación del síndrome de Turner
Información detallada sobre cómo el TSRR apoya la investigación de TS.
Research Opportunities for the TS Community
Please consider participating in Turner syndrome research as it's vitally important for our community to learn from one another.
ACTIVE STUDIES
The Turner Syndrome Research Registry (Ongoing)
Join the online registry in less than 15 minutes. You'll be invited to fill out a health survey and participant in projects as approved by the TSSUS scientific advisory board. Your participation will support TS research for years to come.
Premature Ovarian Insufficiency view flyer
The purpose of the study is to determine why premature ovarian insufficiency (ovaries stop functioning normally before age 40 years of age) and if ovarian tissue freezing will help to preserve fertility in those with TS.
Eligible participants are girls with TS ages 4 to 12 years who have not started puberty and are at risk of premature ovarian insufficiency due to Turner syndrome.
Genetic Influences on Neurocognitive Profiles in Women with Turner Syndrome (March 2021)
If you joined the Turner Syndrome Research Registry (TSRR) and are over 18 years of age, you may have received an email requesting your participation in the research study by Dr. Rebecca Knickmeyer, Associate Professor of Pediatrics, and Human Development at Michigan State University. TSSUS is proud to collaborate with this project and thankful for those who participate in the Turner Syndrome Research Registry.
RESEARCH RESULTS FROM INACTIVE STUDIES
Study participants are the foundation of TS research, and we THANK you and the researchers for helping us all learn more about TS one study at a time. The following are the latest research results. We are proud to connect individuals and family members of the TS community with TS researchers through the TSSUS Research Registry!
Pregnancy, Surrogacy & Adoption
Genetic Counseling for Mosaicism
Transition to Independence and Adult Care
Learn about the Registry
“The Turner Syndrome Research Registry is an essential tool for TS research.”
- 2016 TS symposium researchers
What is the Turner Syndrome Research Registry (TSRR)?
The TSRR collects and stores information about individuals diagnosed with Turner syndrome. People with TS or their guardians voluntarily join the registry by providing contact information as well as health information. Participant contact information is stored at TSSUS, and information obtained through questionnaires and research studies is held at the University of Texas Health Center under the direction of Siddharth Prakash, MD.
The Turner Syndrome Society of the United States Scientific Advisory Board meets regularly to ensure the registry advances TS research. They ensure the information collected is secure, useful, and accessible to TS researchers. The Scientific Advisory Board works personally with prospective researchers to ensure quality studies that support advancing TS research.
The TSRR is patient-powered because participant information is shared with TS researchers based on the consent given upon registration. A participant may choose to stop sharing information or participating at any time. Researchers are required to share the information they gather. For instance, if one researcher obtains the karyotype of a participant, then the participant's record is updated in the TSRR with the new information and available for future TSRR researchers. The TS community values responsible data sharing. The TS community directs research efforts by providing information about research topic needs.
How do I know if I'm already a participant in the TSRR?
You would have filled out a registration form, asking for your permission for the registry to utilize your health information. You would then fill out a health survey with basic information. You may receive emails from time to time asking for you to participate in certain studies. If you are unsure if you are registered in the TS Research Registry, you can email tssus@turnersyndrome.org and we can let you know.
What may a participant of the TSRR expect?
• Join the registry by filling out an informational questionnaire about health and experiences related to TS. The information will help identify if someone is a candidate for a study and eliminates the burden of you answering the same questions for multiple studies.
• You will be invited by email to participate in certain studies. We anticipate 2-3 studies a year will be approved by the Scientific Advisory Board. Not all participants will be invited to participate in all studies, for example, if you don't have diabetes, you may not be invited to a study on TS and diabetes.
• You are encouraged to reach out to us at info@turnersyndrome.org or 800-365-9944 or 832-912-6006 if you have trouble joining, or are not sure of how to answer a question, or have other needs related to the registry or a study.
Why is the TS Research Registry needed (TSRR)?
The TSRR provides health care professionals and researchers with first-hand information about people with TS, both individually and as a group, and over time, increases our understanding of TS. The general TS survey asks very basic questions about health history that would help determine whether someone is possibly eligible to join a research study. The data collected through research studies support researchers with clinical health information that creates a virtual cycle of targeted TS data.
Thank you for partnering to save lives and bring hope to those with conditions like aortic dissection, premature hearing loss, or cognitive deficits affecting their daily lives.