INSIGHTS Registry: Inspiring New Science in Guiding Healthcare in Turner syndrome

INSIGHTS REGISTRY - Inspiring New Science in Guiding Healthcare in Turner syndrome logo and TSGA - Turner syndrome global alliance logo

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!

Turner syndrome global alliance logo

INSIGHTS results have been presented at academic conferences:

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. 

 

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).

 

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.

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, MDpediatric 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:

 

CMS Login