Genetic Mechanisms involved in 46,XY and 46,XX Disorders of Sex Development (EuroDSD)

In disorders of Sex develolment (DSD), a definitive genetic cause is only identifield in 20-30% of cases, thereby limiting the quality of many biological and outcome studies, due to inclusion of highly heterogenous patient groups. This project investigates the role of newly discovered genes and molecular genetic pathways involved in DSDs, making use of the most advanced molecular genetic techniques.