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 firstname.lastname@example.org.
(COMIRB# 19-3027, ; PI Dr. Shanlee Davis; funded by TSGA)
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.
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.