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Page 4 of 7 Donate et al. Rare Dis Orphan Drugs J 2023;2:4 https://dx.doi.org/10.20517/rdodj.2023.02

Table 1. Characteristics of UTHealth Houston Turner Syndrome Research Registry participants (n = 72)

Age less than 18 years 17 (23)
White/European 50 (69)
Hispanic 25 (34)
High school or GED 23 (32)
College or Post-graduate 30 (42)
Reason for diagnosis
Prenatal 8 (11)
Short stature 37 (51)
Other physical features 19 (26)
Pubertal delay 21 (29)
Congenital heart lesions 6 (8)
Menstrual or Fertility 17 (23)
Medical history
Diabetes mellitus 5 (7)
Thyroid disease 22 (31)
Hyperlipidemia 11 (15)
Celiac disease 1 (2)
Elevated liver enzymes 8 (11)
Obesity 13 (18)
Osteopenia or osteoporosis 22 (31)
Primary ovarian insufficiency 22 (31)
Estrogen for pubertal induction 19 (26)
Estrogen for primary amenorrhea 16 (22)

Results are shown as n (percentage). The number of diagnoses exceeds the number of participants because some participants endorsed more
than one diagnosis.

Participants were asked to rate the comfort or insight of their primary care provider (PCP) into TS-related
topics. Most participants agreed that their PCP demonstrated a solid understanding of TS, although this
varied by provider type and was lowest among those whose PCP was not an internist or pediatrician. Most
participants also indicated that they were able to discuss challenging or difficult health topics with their
PCP, regardless of their specialty.

DISCUSSION
Health disparities are differences in health services or health outcomes that are caused by systemic racial,
social, economic, or environmental factors . Our data indicate that limited access to care may drive
[5]
significant health disparities in core measures of healthcare in TS. The UTHealth Houston tertiary clinic
registry cohort generally adheres to guideline-recommended surveillance care for TS-related conditions.
Most participants had seen a cardiologist within 10 years and had at least one pelvic sonogram or audiology
evaluation. However, we identified pronounced disparities in knowledge and insight about TS among
participants who identify as Hispanic or Black. Hispanic or Black participants were less likely to know their
karyotypes, have regular contact with medical professionals or receive guideline-recommended follow-up
visits for TS-related conditions. Individuals who knew their specific karyotype were predominately White
and were more likely to report routine follow-up by a primary care physician. Disparities in access to
regular care are especially important in TS, which requires nuanced lifelong multisystem surveillance and
treatment. Black and Hispanic participants are notably underrepresented in contemporary TS clinical
[5-8]
studies, so there is little data about the impact of race on TS care and outcomes . However,
undertreatment of non-White participants does affect outcomes in other chronic health conditions [9-12] .