Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Mixed gonadal dysgenesis
Introduction
Overview
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.[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.
References
References
- ↑ Donahoe PK, Crawford JD, Hendren WH Mixed gonadal dysgenesis, pathogenesis, and management. Pediatr Surg. 1979 Jun;14(3):287-300.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]