Health status, quality of life and medical care in adult women with Turner syndrome

Abstract

Background: Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care.

Aim of this study: To assess the status of medical follow-up and quality of life (QoL) in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients' experiences and current recommendations.

Methods: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory).

Results: 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health.

Conclusion: Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

Keywords: Turner syndrome; comorbidities; follow-up; health care; health status; quality of life.

Figure 1

Recruitment and study process.

Figure 2

QoL scoring in percentages ‘at the general population norm’ (within 45 and 55, i.e. mean ± ½ s.d. of the SF-36V2 reference population), ‘above the general population’ (above 55, i.e. above mean + ½ s.d.) and ‘below the general population’ (below 45, i.e. below mean − ½ s.d.).

Figure 3

Boxplots showing QoL data distribution for all the 8 sections of the domains analyzed. PCS, physical component summary; MCS, mental component summary; PF, physical functioning; RP, role physical; BP, bodily pain; GH, general health; VT, vitality; SF, social functioning; RE, role emotional; MH, mental health. Horizontal lines refer to mean (50) and mean ± ½ s.d. (45 and 55, respectively) of the SF-36V2 reference population.