INSIGHTS Registry: Inspiring New Science in Guiding Healthcare in Turner syndrome
Purpose of the study: INSIGHTS is a registry study that collects key information on medical history for girls and women with Turner syndrome and the
clinical care they receive. This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. In addition to learning a lot about the current state of health for individuals
with TS, INSIGHTS serves as an infrastructure to conduct future studies that are meaningful to patients and their families.
What’s Involved: Patients who enroll in the INSIGHTS registry give permission to use their medical records for research purposes. They can also choose to be included on recruitment list for future
studies, participate in some surveys about themselves, and allow researchers to save their blood to use for future research. This information gets stored in a secure
database. De-identified information can then be given to researchers approved by the Steering Committee. The Steering Committee will only approve proposals that will provide meaningful knowledge to the TS community.
To learn more about this study, contact 720-777-0705 or email insights@ucdenver.edu.
(COMIRB# 19-3027, ; PI Dr. Shanlee Davis; funded by TSGA)
You can also enroll yourself/your child in the registry online without coming into clinic, click here for the eligibility and consent information.
Click here to see our public dashboard with up-to-date enrollment and demographic data on INSIGHTS participants!
INSIGHTS results have been presented at academic conferences:
2024
Annual Clinical Genetics Meeting
Natalia Klamut, a research coordinator, had a poster about Turner syndrome mosaicism with Trisomy X. We found that mosaicism with a Trisomy X cell line may be more common than reported before. We identified differences between non-mosaic individuals and mosaic with Trisomy X individuals. (For example, we found more structure heart disease, aortic concerns, and short stature in the non-mosaic group than the mosaic with Trisomy X group.) We also identified difference between mosaic with Trisomy X individuals and mosaic with 46,XX individuals. (For example, we found than mosaic with Trisomy X individuals were more likely to have neurodevelopmental concerns than mosaic with 46,XX individuals.) Previous research has not reported this difference. The Trisomy X cell line may have unique contributions that affect counseling and clinical care.
- See her abstract here: ACMG 2024 - Natalia Klamut Abstract.
- See all conference abstract for ACMG 2024 here.
Megan Bettencourt, a genetic counseling student, presented on the prevalence of autism spectrum disorders (ASD) in individuals with Turner syndrome. She found that 12% of her participants had an ASD diagnosis, which was higher than expected. Behavioral disorder and global developmental delay had significant relationships with ASD. This is not different than the general population. We did not find any different or new predictors of an ASD diagnosis in Turner syndrome. Since the prevalence of ASD was high, the results support screening for ASD in children with Turner syndrome.
- See her abstract here: ACMG 2024 - Megan Bettencourt Abstract.
- See all conference abstract for ACMG 2024 here.
2022
Western Society for Pediatric Research
Dr. Shanlee Davis presented an abstract about the diversity of the sample in INSIGHTS. Over 18% of the sample identified as Hispanic/Latinx and about 28% of the sample identified as non-white. Stakeholder engagement in the development of the registry helped successfully recruit a diverse sample.
- See her abstract here: WSPR 2022 - Dr. Davis Abstract.
- See all conference abstracts for WSPR 2022 here.
Pediatric Endocrine Society Annual Meeting
Alexandra Carl, MPH presented an abstract about the demographics of the sample in the INSIGHTS Registry and describing the timing of the Turner syndrome diagnosis. About 14% of participants were diagnosed with Turner syndrome (TS) due to incidental screening. TS patients diagnosed incidentally did not differ from those that are diagnosed secondary to symptoms in terms of karyotype or demographic characteristics. Incidentally identified patients were more likely to be diagnosed prenatally, which was expected due to the use of non-invasive prenatal testing (NIPT).
- See her abstract here: PES 2022 - Description of TS Diagnosis.
- See all conference abstracts for PES 2022 here.
Natalia Klamut, an undergraduate research assistant, presented an abstract about Turner syndrome mosaicism with a Trisomy X (XXX) cell line. Individuals with trisomy X mosaicism were more likely to be diagnosed at an older age than non-mosaic individuals. Those with trisomy X mosaicism were also more likely to be diagnosed secondary to delayed puberty/amenorrhea and short stature and less likely to be diagnosed secondary to dysmorphic features or congenital anomaly than those with non-mosaic TS.
- Read her abstract here: PES 2022 - Features of TS with Trisomy X Mosaicism.
- See all conference abstracts for PES 2022 here.
INSIGHTS Steering Committee
Steering Committee Members:
- Vaneeta Bamba, MD - pediatric endocrinologist, Medical Director of the Growth Center, and Director of the Turner Syndrome Program at Children's Hospital of Philadelphia
- Wendy Brickman, MD - pediatric endocrinology and lead of the Turner Syndrome Clinic at Ann & Robert H Lurie Children's Hospital of Chicago
- Melissa Crenshaw, MD - medical geneticist at Johns Hopkins All Children's Hospital
- Shanlee Davis, MD, PhD - pediatric endocrinologist and director of the Turner Syndrome Clinic at the Children's Hospital Colorado/University of Colorado
- Tazim Dowlut-McElroy, MD, MS - division director of gynecology at Children's Mercy Hospital
- Marybel Good, MNM - founder and program coordinator of Turner Syndrome Global Alliance
- Susan Howell, MBA, MS, CGC - genetic counselor at the Children's Hospital Colorado/University of Colorado
- Jennifer Ladd, MD, MSc - pediatric endocrinologist at Nationwide Children's Hospital
- Jennifer Law, MD, MSCR - pediatric endocrinologist and Medical Director of the Turner Syndrome Clinic at the University of North Carolina
- Siddharth Prakash, MD - cardiologist at the University of Texas Houston Medical Center
- Kelly Ranallo - founder and president of Turner Syndrome Global Alliance
- Roopa Shankar, MD - pediatric endocrinology and lead of the Turner Syndrome Clinic at Children's National Hospital
- Talia Thompson, PhD - research psychologist at the University of Colorado
Important Documents: