Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE)

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.

A national study on the physical and mental health of intersex adults in the U.S.

“…In another report on the dsd-LIFE data, the authors found that shame, stigma, low self-esteem, and low satisfaction with healthcare were associated with clinically significant symptoms of depression and anxiety [33]. Finally, a study on quality of life among dsd-LIFE participants found that good self-reported health status was the most important predictor of psychological quality of life; the authors concluded that providing good physical and mental health care to intersex people is likely to improve their quality of life [34]. In our intersex health study, we found that socio-demographic characteristics such as age and income inadequacy were significantly associated with mental health outcomes, similar to population trends [35].…”

MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

“…Other than in this study, all or the majority of patients with CAH included in QoL studies have had the classical phenotype. The reports are inconsistent and indicate varying degrees of impaired QoL (18,170,171,172,173,174). The outcome of genital surgery and satisfaction with sexual function affect the general wellbeing and are likely to affect the QoL of women with classic CAH, especially women with the null and I2 splice genotypes (175,176).…”

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

“…Physical or mental health problems are highly prevalent in individuals who have a DSD (2,8). Importantly, not the specific diagnosis but the personal health status predicts QoL (4). Overall, individuals with a DSD report good QoL but studies are often contradictory, possibly due to differences in local treatment and care, age and cultural context and differences in methodology.…”

“…The prevalence of the individual conditions is mostly very low and only a small fraction of all conditions characterised by variations in sex characteristics pose major clinical challenges and/or require multidisciplinary care (1). Recent outcome studies suggest that having a DSD may impact an individuals' health status and psychological well-being in every stage of life (2,3,4), though physical or psychological comorbidities have been rarely studied in detail, especially in adults. Influencing factors include the rarity of the respective conditions, individual drawbacks to participate in medical studies and the dispersion of affected individuals over decentralised health care structures, with frequent loss of patients for follow-up.…”