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Health Qual Life Outcomes. 2018 Apr 3;16(1):54. doi: 10.1186/s12955-018-0881-3.

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).

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Klinik fur Kinder- und Jugendmedizin, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany.
Klinik fur Kinder- und Jugendmedizin, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany.
Pediatrics, Penn State College of Medicine, Hershey, PA, 17033, USA.
Charite, Campus Virchow-Klinikum, Koordinierungszentrum fur Klinische Studien (KKS Charite), 13353, Berlin, Germany.
Medische Psychologie en Medisch Maatschappelijk Werk, VU Medisch Centrum, PO Box 7057, 1007, MB, Amsterdam, The Netherlands.
Charite, Campus Virchow-Klinikum, Klinik fur Padiatrie mit Schwerpunkt Endokrinologie und Diabetologie, 13353, Berlin, Germany.
Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, 171 76, Stockholm, Sweden.
Endocrinologie pediatrique, Centre de reference des maladies rares du developpement sexuel, Hopital Bicetre, Universite Paris-Sud, 78 rue du General Leclerc, 94270, Le Kremlin Bicetre, France.



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 describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis.


The 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.


Three 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.


Except 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.


German Clinical Trials Register DRKS00006072 .


Disorders of sex development; General population; Health status; Quality of life; Rare disorders

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