Introduction: The umbrella term disorders of sex development (DSD) encompass a conglomerate of different genetic conditions affecting gonadal and adrenal function. Access to specialized health care and dissatisfaction with medical and psychosocial care is an issue for many adult patients. However, it is not evident which type of health care meets the needs of care seekers with DSD.
Patients and methods: The European multidisciplinary outcome study dsd-LIFE evalutated 1061 individuals with conditions covered by the umbrella term DSD such as XY conditions with gonadal dysgenesis, androgen action or synthesis defects, XX conditions with gonadal dysgenesis, congenital adrenal hyperplasia, Klinefelter and Turner syndrome and individuals with 45,X0,/46,XY karyotypes. Health care and satisfaction with care was evaluated in these patients by CQ4-4, CHC-SUN and a condition-specific self-constructed questionnaire considering psychological care and information management. The study was conducted in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom).
Results: Access to specialized health care and satisfaction with care of this cohort will be presented. The influence of diagnosis, sociodemographic data, centre of care and contact to support groups will be presented.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology