Diagnosis of DSD in Children—Development of New Tools for a Structured Diagnostic and Information Management Program within the Empower-DSD Study

Abstract

Background: Current recommendations define a structured diagnostic process, transparent information, and psychosocial support by a specialized, multi-professional team as central in the care for children and adolescents with genital variations and a suspected difference of sex development (DSD). The active involvement of the child and their parents in shared decision-making should result in an individualized care plan. So far, this process has not been standardized. Methods: Within the Empower-DSD study, a team of professionals and representatives of patient advocacy groups developed a new diagnostic and information management program based on current recommendations and existing patient information. Results: The information management defines and standardizes generic care elements for the first weeks after a suspected DSD diagnosis. Three different tools were developed: a guideline for the specialized multiprofessional team, a personal health record and information kit for the child with DSD and their family, and a booklet for medical staff not specialized in DSD. Conclusions: The new information management offers guidance for patients and professionals during the first weeks after a DSD diagnosis is suspected. The developed tools’ evaluation will provide further insight into the diagnostic and information-sharing process as well as into all of the involved stakeholders’ needs.

Keywords

• DSD
• information management
• shared decision-making
• genital variation
• gender assignment
• diagnostics