Mixed gonadal dysgenesis

Overview
Mixed gonadal dysgenesis is to a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45,X/ 46, XY. If Turner syndrome is defined as a condition where one sex chromosome is absent or abnormal, mixed gonadal dysgenesis may be interpreted as a specific variation of Turner’s. The phenotypical expression may be ambiguous, intersex, or male, or female pending the extent of the mosaicism.

It has been pointed out that the gonads may not be symmetrical, thus the development of the Mullerian duct and wolffian duct may be asymmetrical, too. The presence of dysgenetic gonadal tissue and Y chromosome material, there is a high risk of the development of a gonadoblastoma, thus removal of the gonads is usually indicated.