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. 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.
The present case was diagnosed as mixedgonadaldysgenesis 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 mixedgonadal 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.
Mixedgonadaldysgenesis 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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