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DISORDERS OF SEX DEVELOPMENT

Clinical Genetics Endocrinology Genomics Paediatrics


Disorders of 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 Disorders of sex development. Testing criteria can be found here.

The DSD panel consists of 35 genes (list can be found here).

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