complete XY gonadal dysgenesis

Complete gonadal dysgenesis in 46,XY individuals is characterized by a female phenotype with full development of unambiguous female genitalia, normally developed Müllerian structures, and streak gonads. In general, these patients come for clinical assistance because of delayed puberty.

Conversely, 46,XY partial gonadal dysgenesis is characterized by partial testicular differentiation therefore ambiguous genitalia is usually observed in the newborn period. Gonadal histology is variable but frequently consists of hypoplastic testicular tubules intermixed with areas of ovarian stroma. Internal ducts typically consist of a combination of Wolffian and Mullerian ducts.

See also

 gonadal dysgenesis
 XY gonadal dysgenesis