Differences in sex development (DSD) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. DSDs are caused either by disruption of sex differentiation due to defects in hormone production/sensitivity, or by alterations in the pathway responsible for determining gonadal development.
NHSE test directory code: R146 Differences in sex development. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.
The DSD panel consists of 35 genes (list can be found here).
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