Mixed gonadal dysgenesis

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.

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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.^[1] 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.

See also

• Gonadal dysgenesis

References

1. ^ Donahoe PK, Crawford JD, Hendren WH Mixed gonadal dysgenesis, pathogenesis, and management. Pediatr Surg. 1979 Jun;14(3):287-300.