Abstract
BackgroundPrevious studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis.MethodsThe multicentre cross-sectional clinical evaluation (dsd-LIFE) took place in 14 specialized clinics in six European countries. Adolescents (≥16 years) and adults having a DSD condition were included from 02/2014 to 09/2015. The main outcome QOL was measured by the WHOQOL-BREF (domains of physical health, psychological, social relationships, and environment). QOL was compared to country specific reference populations by using unpaired t-tests. Linear regression models explained the additional variance of the diagnosis on QOL.ResultsThree hundred one individuals with Turner Syndrome, 219 with Klinefelter Syndrome (including XYY), 226 with 46,XX CAH and 294 with rare DSD conditions (gonadal dysgenesis, androgen insensitivity syndrome, severe hypospadias, and androgen synthesis errors or other diagnosis) took part. Compared to healthy European populations, QOL was similar in psychological, slightly worse in physical health, and slightly better in environment. In social relationships, QOL was significantly poorer compared to healthy and non-healthy reference populations. In linear regression models health status was the most important predictor of QOL; additional variance was explained by feelings about household’s income in all domains, and the relationship status in social relationships. Diagnosis explained nearly no additional variance.ConclusionsExcept for social relationships, most people with DSD adapt well to their life circumstances and report a good QOL. Not diagnosis, but the individual’s health status is much more important than previously thought. Therefore care for people with DSD should focus more on chronic physical or mental health problems both related and unrelated to the diagnosis itself.Trial registrationGerman Clinical Trials Register DRKS00006072.
Highlights
Previous studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition
For the dsd-LIFE study cohort the WHOQOL-BREF showed acceptable to good psychometric properties with the internal consistency of Cronbach’s alpha being 0.71 for social relationships and ≥ 0.8 for every other domain [Table 2]
Comparison to the reference population The QOL of the study participants compared to country specific reference population is shown in [Fig. 1a-d]; the exact scores are presented in Table 3 [Table 3]
Summary
Previous studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We agreed in dsd-LIFE to use the acronym DSD, standing for disorders/differences of sex development, and to refer to the specific condition as often as possible. Management of DSD conditions is complex, because people with DSD often have other health problems and chronic physical and mental diseases both related and unrelated to the specific DSD diagnosis. To emphasize this aspect an update of the recommendation of the Chicago Consensus Meeting was released in 2016, which stated that one major aim in the treatment of people with DSD should be to reach the best possible quality of life (QOL) for everybody [2]
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