ESPE Abstracts

Background: Cardiovascular diseases are the leading cause of premature death among women with Turner syndrome (TS). Studies in youth with TS suggest that cardiometabolic-related dysfunction is present in childhood, however these small convenience samples may not be generalizable to the whole TS population. PEDSnet, the largest pediatric Health Learning System in the United States (US) representing >6 million children, offers a unique opportunity to examine cardiometabolic-related outcomes among a large, nationally representative cohort of youth with TS.

Methods: Electronic medical record data for all females with a diagnosis of TS (n=2,019) were obtained from PEDSnet and each matched to four controls on site, race, ethnicity, payor type, age at most recent visit (mean 14.9 yrs), and duration in PEDSnet (mean 7.6 yrs). The prevalence of a diagnosis of overweight/obesity, hypertension, dyslipidemia, dysglycemia, and liver dysfunction were compared between TS and controls with alpha set at 0.01 (Bonferroni correction). Odds ratios (OR) and 95% confidence intervals (CI) were computed using generalized estimating equations in both an unadjusted model then adjusted for risk factors that were all associated with cardiometabolic risk including age, obesity and prescriptions for somatropin, estrogens, and/or antipsychotic medications.

Results: TS was associated with a higher odds of all five cardiometabolic-related outcomes in unadjusted analyses: hypertension (OR 4.5 [95% CI 3.9-5.2]), liver dysfunction (4.3 [3.8-5]), dyslipidemia (3.5 [3.0-4.2]), overweight/obesity (2.1 [1.9-2.3]), and dysglycemia (1.8 [1.3-2.5]). In the adjusted model, higher odds of hypertension (3.0 [2.4-3.7]), liver dysfunction (2.4 [1.9-2.9]), and dyslipidemia (1.7 [1.3-2.3]) persisted, while dysglycemia was no longer significant (1.0 [0.7-1.6]).

Conclusions: In this large, clinical population-based cohort of US youth, individuals with TS had higher odds of all cardiometabolic-related diagnoses compared to matched controls. Accounting for obesity and treatments commonly used in TS only partially explained this increase, underscoring the appropriateness for universal, rather than targeted, screening for cardiometabolic-related conditions in youth with TS.