Disorders of sexual development

A disorder of sexual development (DSD) can be defined as “…any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads.” “Ambiguous genitalia” is a common term that is used to describe “atypical” internal or external genitalia. However, there are DSDs without ambiguity of the external genitalia that are not noted until later in life (e.g., pubertal failure). The definition of DSDs is not always hard and fast, or straightforward. For example, individuals with Turner syndrome are “female” yet Turner syndrome is a form of a DSD.