12546 Association Of Quality Of Life And Age At Diagnosis In Women With Turner Syndrome

• Published in: Journal of the Endocrine Society Vol. 8; no. Supplement_1
• Main Authors: Julian, G, Folsom, L J
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 05-10-2024
• Subjects: Abstract
• ISSN: 2472-1972; 2472-1972
• DOI: 10.1210/jendso/bvae163.1564

Abstract Disclosure: G. Julian: None. L.J. Folsom: None. Background: There is a well-documented association between chronic disease and decreased quality of life (QoL), including in women with Turner syndrome (TS). Much of the existing research exploring QoL in women with Turner syndrome primarily establishes the finding of decreased QoL; fewer studies seek to explore potential etiologies for this finding. Health-related QoL (HRQoL) has been evaluated using the HRQOL 14, a validated measure of QoL, since 1995, and in individuals >12 years of age as part of National Health and Nutrition Examination Survey (NHANES). The primary objective of our study was to investigate the relationship between HRQoL in women with TS and age of TS diagnosis (AoD). A secondary aim included identification of correlations between medical treatment history and HRQoL. Methods: After obtaining IRB approval, the electronic medical record (EMR) was queried using the “slicer-dicer” feature using search and limiting criteria based on desired and specified variables. Inclusion criteria encompassed a documented diagnosis of TS, a recorded office visit within the past 2 years, and participant age of at least 18 years at time of study initiation. Exclusion criteria included lack of a confirmed diagnosis of TS, presence of other diseases known to influence stature or pubertal development, inability to understand the survey, lack of ability to read or speak English, and diagnosis of TS within the past year. QoL was assessed using the HRQOL 14. After review for exclusion criteria an opt-out letter was mailed via USPS. Results: Thirty participants completed the study out of 84 qualifying individuals. Early AoD was defined as younger than 13 years; late AoD was defined as >12 years. Twenty-four participants met criteria for early AoD; six met criteria for late AoD. The mean age for early diagnosis was 6 years and the mean age for late diagnosis was 23 years. The early AoD group reported fewer medical problems (3.6 vs. 6.2 other medical problems, p=0.009), was less likely to state days of lack of sufficient sleep (4.5 vs. 30 days, p=0.001), and was less likely to note days of limited physical activity due to pain (1 vs. 15 days, p=0.007). Conclusions: The novel finding of association of earlier AoD of TS and fewer medical problems invites the possibility that other health conditions may be more effectively managed if TS is diagnosed earlier. This finding highlights the opportunity for enhanced care with earlier AoD. Presentation: 6/1/2024