pseudohermaphroditism (male)

Last reviewed 08/2021

This is the situation is which an individual has male chromosomal and gonadal gender but with apparently female external genitalia.

Common to all types of male pseudohermaphroditism is a defect in the virilization of the male embryo. There is usually a genetic deficit in androgen production or action.

The most common forms are:

  • androgen receptor deficiency - testicular feminisation syndrome
  • 5 alpha-reductase deficiency