Disorders of Sex Development (DSD) constitute a group of rare to very rare mostly heritable disorders affecting the genito-urinary tract and in most instances also the endocrine-reproductive system. We hypothesize that stringent and stepwise analysis of cases with DSD will result in a systematic and reliable discovery of DSD-relevant biochemical, genetic and functional profiles, allowing for the detection of new diagnostic markers, both in steroid biosynthesis as well as in genetics to provide the basis for explaining the nature of these disorders. Characterization of the functional aspects of androgen action as the main basis for sex-related phenotype will improve the understanding of the pathophysiology of DSD phenotypes. This will allow for better decision-making in gender assignment and therapeutic approaches to DSD as well as improve gender medicine in general.
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