ESPE Abstracts

46,XY differences of sex development (46,XY DSD) comprise a very heterogeneous group of people amongst DSD. While some conditions are well characterized on the molecular level, e.g. androgen biosynthesis enzyme deficiency or DSD due to genetic variants in the androgen receptor, many 46,XY DSD patients lack a specific diagnosis, especially those people where gonadal development is affected. A specific diagnosis, however, is helpful to develop an individualized management programme for life-long care. Standardized care should be offered through specified centres for DSD management offering a multidisciplinary approach for longitudinal assessment. This offer needs to spread from the initial diagnostic work up for the newly diagnosed child and its family to a transition process during adolescence and continuous upkeep through adulthood. With the restriction of surgical procedures altering genital appearance in childhood, we will be more and more confronted with adolescents actively seeking advice for possibilities of bodily appearance. Second, with the postponement of gonadectomy to adulthood or the maintenance of the gonads in situ, we need to develop screening programmes as well as a decision-making process for these patients regarding gonadal management. This adds to queries on hormone therapy during adolescence and adulthood. In association with certain conditions, specialized preventive management has to be developed, e.g. for neuropathy in people with desert hedgehog variants or with MYRF mutations for hyperopia. As in many rare conditions, these management issues need interested experts which have to be part of the network for DSD care. Finally, psychosocial support needs to be offered throughout the life-span to empower all affected person in changing life situations.