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XY partial gonadal dysgenesis
Tuesday 8 March 2011
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.
Conversely, 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.
Etiology
DMRT1 mutations
- DMRT1-associated XY gonadal dysgenesis
See also
gonadal dysgenesis
XY gonadal dysgenesis