ESPE Abstracts

Introduction: The suspected diagnosis of an intersex condition in a child often causes great uncertainties in families. Since these are rare diagnoses, families often do not receive timely and comprehensive information. The Empower-DSD information management defines a structured multidisciplinary care and information exchange for children and their caretakers in the first 8-12 weeks after a suspected DSD diagnosis.

Methods: Empower-DSD was a government-funded study with a quantitative and a qualitative evaluation. From June 2020 to August 2022 51 families completed the Empower- DSD information management in 4 DSD centers in Germany, following a structured care pathway(1). Diagnosis, age of child, total duration, number of appointments and completed elements of care were documented. Semi-structured guided interviews with caretakers, peers and professionals explored expectations and the experience of the involved stakeholders.

Results: Care elements were documented in in 11 children with congenital adrenal hyperplasia (CAH), one child with Turner-syndrome and 27 children with another DSD-diagnosis (chromosomal DSD, 46,XY-DSD or 46,XX-DSD) with a mean age of 1,8 years (0-18 years). The duration was above 12 weeks in 50% if the families. Psychosocial and medical counseling, diagnostic process and the case conference within the DSD center were documented in the majority, peer counselling, case conferences between centers and the feedback to the primary care provider were documented less frequently. 45 people (15 caretakers, 12 peers and 18 professionals) were interviewed. The information management provided information about the diagnosis and encouraged a trusting relationship with the DSD team. It alleviated stress and uncertainties for families. Interviewees gave a positive feedback on the developed materials. Caretakers underlined the importance of an early access to specialized care and a reassuring and calm attitude of professionals. Families and professionals stated that the program required time and resources and preferred an individualized approach instead of a predefined duration.

Conclusion: The structured support within the first weeks after a DSD diagnosis was perceived to be of high quality. Information on the nature of the decision-making process and peer narratives could be added to the information material. Further studies should evaluate the long-term impact of the information management on coping and wellbeing of children with a DSD diagnosis. 1. Wechsung K, Marshall L, Jurgensen M, Neumann U, On Behalf Of The Empower-Dsd Study G. Diagnosis of DSD in Children-Development of New Tools for a Structured Diagnostic and Information Management Program within the Empower-DSD Study. J Clin Med. 2022;11(13).