The aim is to provide as much information as possible about the underlying biological aberration, but also about the possible outcome of given distinct disorders. Long-term outcome studies on the various DSD entities are desperately needed in order to establish a basis for evidence-based medicine regarding sex assignment and conservative and surgical treatment options. Irreversible interventions have to be avoided before an accurate diagnosis can be made. In the past, premature decisions already led to severe disturbances in patients and families (see patient contact groups under Useful links).
Main scientific and technological objectives
- Carry out well-integrated biochemical, molecular, and genome-wide research in order to identify patients with monogenic and non-defined DSD
- Stratify the patients according to clinical data (WP 01)
- Allow for rapid genetic analysis in the patients (WP 02)
- Identify new genetic abnormalities in a whole genome screen (WP 02)
- Define factors related to time-dependent modulation of androgen action as implementers of phenotype (WP 03)
- Search for methylation patterns as “footprints” of hormone-dependent genetic alterations (WP 04)
- Identify biochemical profiles related to specific disorders (WP 05)
- Disseminate study results and provide implementations and guidelines (WP 06; WP 07)
- Establish a European consortium on the basis of genuine and equal partnership between leading clinical centres, academic groups, cell biologists, and geneticists to provide further knowledge about the physiology and pathophysiology of sex development for the benefit of members of the European Community and supported by a tailored virtual research environment targeted to the needs of DSD research.