Abstract| Volume 36, ISSUE 2, P184-185, April 2023

26. Assessment of BMI and Other Cardiometabolic Parameters in Turner Syndrome

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      Turner Syndrome (TS) is a genetic disorder often associated with metabolic syndrome including type 2 diabetes, dyslipidemia, and insulin resistance manifesting in the early years of life. It is well known that young girls and adults with TS have more cardiometabolic risk factors than age-matched peers without TS. Our objective was to describe cardiometabolic parameters in a late adolescent/young adult cohort of individuals with TS.


      Twelve late adolescent and young adult patients with TS, ranging in age from 19-26 years, seen at the NIH Turner Syndrome clinic who provided informed consent for research were included in this case series. Karyotype, hormone replacement therapy (HRT), age at documented diagnosis of primary ovarian insufficiency (POI), basic vitals, and cardiometabolic parameters were collected per protocol, as shown in Table 1. BMI values were classified as healthy weight, overweight, or obese. Blood pressure values were classified as normal, elevated, stage I hypertension, and stage II hypertension. LDL cholesterol values were classified as optimal, near or above optimal, borderline high, high, and very high. Of the 12 patients in this series, 5 patients (42%) were healthy weight, 1 patient (8%) was overweight, and 6 patients (50%) were obese. Elevated total cholesterol levels were seen in 3 out of 5 patients with a healthy BMI, and 2 of these 3 patients had high risk LDL values . Of the remaining 7 overweight and obese patients, 4 patients also had high risk LDL values. The obesity rate of 50% in this TS case series was higher than the 41.9% national obesity rate for women overall. HbA1c and estimated average glucose levels were within normal range for all the patients despite the presence of high-risk lipid profiles in 50% of the patients in this case series.


      This case series highlights the importance of monitoring multiple parameters in combination for patients with TS to assess cardiometabolic risk. Of note is the presence of elevated total cholesterol and high-risk LDL profiles in TS patients with a healthy BMI. TS patients with a healthy BMI may still be at higher risk for adverse cardiovascular outcomes and metabolic syndrome. Late adolescent and young adult patients with TS are known to have a higher obesity rate compared to the national average, and higher rates of metabolic dysfunction. Our small case series did not display any obvious trends between increasing BMI and cardiometabolic parameters in adolescents and young adults < 26 years old. Longitudinal follow up of young TS patients is needed to better understand cardiovascular changes over time and if interventions during childhood can help prevent or delay progression of metabolic syndrome.
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