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Encyclopedia > Mixed gonadal dysgenesis

Mixed gonadal dysgenesis refers to a condition of abnormal and asymmetrical gonadal development leading to a disturbed sex differentiation. A number of abnormalities 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. An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... Mosaicism In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ...


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


  Results from FactBites:
 
Mixed Gonadal Dysgenesis with Structural Anomalies of the Y Chromosome: 14(3): Letter (826 words)
The present case was diagnosed as mixed gonadal dysgenesis because of the presence of unilateral testis, a contralateral streak gonad and gonosomal mosaicism with both XO and XY cell lines.
We reported3 a two-year, six-month-old Arab female with mixed gonadal dysgenesis.4 She showed ambiguous external genitalia, right intra-abdominal testis, left streak gonad, bilateral müllerian derivatives, gonosomal mosaicism with multiple cell lines including structural aberrations of the Y chromosome in 36% of cells.
Mixed gonadal dysgenesis cases with structural anomalies of the Y chromosomes have been reported.3,5 These include del Y (q21), ring-Y dic(Y) and isochromosome for short arm (p) or long arm (q).
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