Differences or Disorders of Sex Development (DSD) constitute a complex group of rare diseases that are caused by chromosomal, genetic and endocrine metabolic disturbances that affect the endocrine-reproductive system, thereby modulating the sexual phenotype of a given person. DSD poses great challenges for our understanding of sex and gender development in biology, medicine and societal issues. Enormous scientific advances are possible through modern genetic techniques in conjunction with thorough clinical and laboratory assessment. This COST Action will link leading international scientists, clinicians, and stakeholders in the field to characterise DSD with the aim of a diagnosis to all people with DSD with structured, potentially personalised, management and therapies. The Action will aid to the understanding of the clinical heterogeneity as well as reveal the pathophysiological commonalities between different forms of DSD at the molecular level. It will additionally benefit the science in rare diseases of the international community and also the formation of a European Reference Network. Since DSD is an umbrella term for a number of conditions most of which imply more than purely medical or scientific expertise, the Action will pay due attention to the larger societal implications of DSD research.
sex and gender development - endocrinology - genetics - rare diseases - reference networks