Health-related quality of life in children with disorders of sex development (DSD)

Martina Jürgensen, Anke Lux, Sebastian Benedikt Wien, Eva Kleinemeier, Olaf Hiort, Ute Thyen


UNLABELLED: Disorders of sex development (DSD) are rare genetic conditions resulting in atypical development of the sex organs. While some evidence is available on psychosexual outcomes, much less is known about the quality of life in this population, especially in children. Health-related quality of life (HRQOL) is a widely accepted endpoint for assessment and evaluation of interventions and medical care. Within the German DSD Network study, 86 children aged 8-12 years with several subtypes of DSD were recruited from Germany, Austria and Switzerland. Demographic, medical and psychosocial variables were collected through interviews of the attending physicians, the children and the parents. HRQOL was the primary outcome. It was assessed by the KINDL-R Questionnaire [2001]. Psychosexual determinants included gender identity/gender dysphoria, gender role behaviour, the child's knowledge about the condition and number/timing of genital surgery. A significant reduction of HRQOL was reported in children's self-report (p < 0.001), in particular in the area of self-esteem (p < 0.001), physical well-being (p < 0.01) and school functioning (p < 0.05). Girls with congenital adrenal hyperplasia who experienced gender dysphoria reported lower HRQOL scores compared to the study group at large. Atypical gender role behaviour was not associated with HRQOL.

CONCLUSION: Psychosocial support of children with DSD and their families appears to be necessary in at least some cases and must be accessible for all patients.

Original languageEnglish
JournalEuropean Journal of Pediatrics
Issue number7
Pages (from-to)893 - 903
Number of pages11
Publication statusPublished - 07.2014


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