FRI456 Endocrine and Non-Endocrine Causes of Fatigue in Adults With Turner Syndrome: Cohort Study and Review of the Literature

Disclosure: A.G. Rosenberg: None. V.D. Dingemans: None. A.G. Bos-Roubos: None. S. Luijks: None. A.B. Dessens: None. R. Dykgraaf: None. J.W. Roos-Hesselink: None. E.F. van Rossum: None. A.J. van der Lely: None. L.C. de Graaff: None. Background: Turner syndrome (TS) is a rare genetic developmental disorder characterized by gonadal dysfunction, short stature and heart defects, among others. Women with TS often suffer from severe fatigue, for which they are typically referred to endocrinologists. The diagnostic work-up is generally time-consuming and invasive, but it rarely solves the problem. To prevent the personal and financial burden of unnecessary diagnostic procedures, it is crucial to understand fatigue in TS. Therefore, in this study, we explored the association between fatigue and endocrine and non-endocrine comorbidities in a - for rare disorders - large group of TS women. Design: Cross-sectional study. Methods: 170 genetically confirmed TS women who attended the TS reference center underwent a systematic health screening, including a structured interview, complete physical examination, biochemical measurements, perceived stress and fatigue questionnaires and additional tests when indicated. Results: Median age was 32.6 years (IQR 23.9 - 41.4 years) and median BMI was 25.4 kg/m(2) (IQR 22.6 - 28.5 kg/m(2)). One in three TS women experienced severe fatigue. Liver enzyme disturbances and body mass index were significantly associated with higher fatigue scores, while childhood growth hormone treatment was associated with lower fatigue scores. Perceived stress was highly correlated with fatigue (ρ = 0.71; P < 0.001). Conclusions: There was no association between fatigue and most endocrine and non-endocrine disorders, which implies that fatigue is only partly explained by somatic disorders. The high correlation between perceived stress and fatigue suggests that TS-specific neuropsychological processes may play an important role in the etiology of fatigue in TS women. We provide a practical algorithm for the endocrine, non-endocrine and psychological approach to fatigue in TS women. Presentation Date: Friday, June 16, 2023