Objective: As part of the value-based healthcare programme in our hospital, a set of patient-reported outcome measures was developed together with patients and implemented in the dedicated Turner Syndrome (TS) outpatient clinic. This study aims to investigate different aspects of health-related quality of life (HR-QoL) and psychosocial functioning in women with TS in order to establish new possible targets for therapy. Design/Participants: A comprehensive set of questionnaires (EQ-5D, PSS-10, CIS-20, Ferti-QoL, FSFI) was developed and used to capture different aspects of HR-QoL and psychosocial functioning in a large cohort of adult women with Turner syndrome. All consecutive women, ≥18 years, who visited the outpatient clinic of our tertiary centre were eligible for inclusion. Results: Of the eligible 201 women who were invited to participate, 177 women (age 34 ± 12 years, mean ± SD) completed at least one of the validated questionnaires (88%). Women with TS reported a lower health-related quality of life (EQ-5D: 0.857 vs 0.892, P =.003), perceived more stress (PSS-10:14.7 vs 13.3; P =.012) and experienced increased fatigue (CIS-20: P <.001) compared to the general Dutch population. A relationship between noncardiac comorbidities (eg diabetes, orthopaedic complaints) and HR-QoL was found (R =.508). Conclusions: We showed that TS women suffer from impaired HR-QoL, more perceived stress and increased fatigue compared to healthy controls. A relationship between noncardiac comorbidities and HR-QoL was found. Especially perceived stress and increased fatigue can be considered targets for improvement of HR-QoL in TS women.

congenital heart defects, hypogonadism-stress, patient-reported outcome measures, physiological-fatigue, quality of life, Turner syndrome
dx.doi.org/10.1111/cen.14166, hdl.handle.net/1765/125049
Clinical Endocrinology
Department of Cardiology

van den Hoven, A.T, Bons, L.R, Dykgraaf, R.H.M, Dessens, A.B, Pastoor, H, de Graaff, L.C.G, … Roos-Hesselink, J.W. (2020). A value-based healthcare approach: Health-related quality of life and psychosocial functioning in women with Turner syndrome. Clinical Endocrinology. doi:10.1111/cen.14166