DEFINITION OF DSDs

Disorders of sex development (DSDs) are defined as conditions involving the following elements.

  • congenital development of ambiguous genitalia (e.g., 46,XX virilizing congenital adrenal hyperplasia; clitoromegaly; micropenis)

  • congenital disjunction of internal and external sex anatomy (e.g., Complete Androgen Insensitivity Syndrome; 5-alpha reductase deficiency)

  • incomplete development of sex anatomy (e.g., vaginal agenesis; gonadal agenesis)

  • sex chromosome anomalies (e.g., Turner Syndrome; Klinefelter Syndrome; sex chromosome mosaicism)

  • disorders of gonadal development (e.g., ovotestes)

DSDs consequently include anomalies of the sex chromosomes, the gonads, the reproductive ducts, and the genitalia. Note that the term “intersex” is avoided here because of its imprecision. See DSDs and Related Concerns for a list of DSDs and condition-specific concerns.