Mixed gonadal dysgenesis
| Mixed gonadal dysgenesis |
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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 syndrome. The phenotypical expression may be ambiguous, intersex, or male or female depending on the extent of the mosaicism.
As the gonads may not be symmetrical, 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 and removal of the gonads is usually indicated.
Although similar in some ways to true hermaphroditism, the conditions can be distinguished histologically.[2]
See also
References
- ^
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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
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