Endocrine Abstracts

Background: Recent guidelines suggest that patients with 45,X/46,XY mosaicism follow the same screening surveillance as patients with classic Turner Syndrome (TS), regardless of gender or phenotypic presentation, due to similar multisystem morbidities. This study aims to evaluate the adherence to TS screening guidelines for this patient population and identify patient characteristics affecting screening completion rates.

Methods: This is a retrospective cohort study of patients with 45,X/46,XY mosaicism who had at least one visit at a urology or endocrinology outpatient clinic in a tertiary care pediatric hospital between 2001-2026. Health screenings were considered ‘complete’ if done following the guideline’s specified frequency; ‘sporadic’ if not done following the practice guideline’s frequency, but done at least once; or ‘incomplete’ if the screenings were never done.

Results: Forty seven patients (26 female and 21 male) met inclusion criteria and were included in the study. The average patient age was 15.96 ± 8.87 years. Overall, patients should have completed an average of 33.62 (±4.41) health screenings based on age category. However, only 37.67% of these screenings were complete. The remaining screenings were either sporadic (27.59%) or went incomplete (34.74%). Older participants were more likely to have sporadic screenings (r = 0.45, P<0.01) or incomplete screenings (r = 0.34, P<.05), while younger participants were more likely to have complete screenings (r = -0.56, P<0.001). Further, patients assigned female at birth had significantly higher rates of complete screenings (P = .05), and significantly lower rates of incomplete screenings (P = .05), than patients assigned male at birth. Rates of sporadic screenings did not significantly differ between male and female patients. Of screenings completed, 22.67% indicated abnormal results, including hypertension, cardiac concerns, and BMI concerns. Patients did not significantly differ in the percent of normal vs abnormal screening results on the basis of sex assigned at birth or age.

Conclusions: Despite recent recommendations suggesting that patients with 45,X/46,XY mosaicism follow Turner Syndrome health screening guidelines, the majority of these patients are undergoing sporadic screenings or not being screened at all. Given that almost a quarter of screenings completed yielded abnormal results, these findings expose a critical gap in clinical care.