Impact of the Empower-DSD training program on the health-related quality of life in children, adolescents and young adults with differences of sex development and their parents.

Background: Treatment of individuals with a difference of sex development (DSD) must respect ethical principles, human rights, and national laws. Informed consent is central and should be supported by age-appropriate information from early on. In Germany, genital surgery in DSD is prohibited until autonomous consent is possible, requiring sufficient maturity and proper information. DSD may negatively affect individuals and their families' health-related quality of life (HRQoL) and may be associated with stigmatization, inadequate information and lack of peer counseling. We examined if HRQoL of affected individuals and their parents can be improved by a newly developed multidisciplinary training program. Methods: In collaboration with self-help organisations, the Empower-DSD consortium developed and implemented a two-day modular educational program for children and young adults (6-24 years) with DSD (Congenital adrenal hyperplasia, Turner-syndrome, Klinefelter-syndrome, other 46,XX and 46,XY-DSD diagnoses) and their families, addressing diagnosis-specific and psychosocial topics. From 08/2020 to 09/2022, 104 multidisciplinary sessions were conducted in five German DSD centres. As primary endpoint, participants completed HRQoL questionnaires (WHO-5, KINDL) at baseline, and three and six months post-program. Data were analyzed separately for children (6-13), adolescents (14-17), young adults (18-24), and parents. Additionally, qualitative interviews and participatory observations of children's sessions were analyzed using qualitative content analysis within a mixed methods approach. Results: We evaluated 102 children, 95 adolescents, 56 young adults, and 380 parents/relatives. Questionnaire completion rates were 96% at baseline and 60% at 6 months. HRQoL was stable or improved in over 66% of children and parents, and in 57% of adolescents and young adults at 6 months. Qualitative analysis of 71 interviews and four observed sessions indicated participants felt empowered by the psychological support and the exchange with peers and valued the opportunity to discuss their diagnosis openly. Conclusion: Children with DSD and their parents seemed to benefit more from the new education program than adolescents and young adults with DSD. Overall, the two-day program encourages engagement with DSD diagnosis. The exchange with other people with DSD or parents was experienced as empowerment. Further research should include long-term follow-ups to determine the sustainable effects of multidisciplinary training programs. Clinical Trial Registration: https://innovationsfonds.g-ba.de/projekte/empower-dsd.219, identifier DRKS00023096.