Mixed gonadal dysgenesis

Mixed gonadal dysgenesis
Mixed gonadal dysgenesis
Classification and external resources
DiseasesDB 29266
MeSH D006060

Mixed gonadal dysgenesis is 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 Müllerian duct and Wolffian duct may be asymmetrical, too.[1] Because of 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.

Although similar in some ways to true hermaphroditism, the conditions can be distinguished histologically.[2]

See also


  1. ^ Donahoe PK, Crawford JD, Hendren WH (1979). "Mixed gonadal dysgenesis, pathogenesis, and management". J. Pediatr. Surg. 14 (3): 287–300. doi:10.1016/S0022-3468(79)80486-8. PMID 480090. http://linkinghub.elsevier.com/retrieve/pii/S0022346879000531. 
  2. ^ Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (October 2002). "True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases". Mod. Pathol. 15 (10): 1013–9. doi:10.1097/01.MP.0000027623.23885.0D. PMID 12379746. 

External links

Mixed gonadal dysgenesis Children's Hospital Boston

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