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XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene
Cristina Morerio1, Vladimiro Calvari, Cristina Rosanda
1Divisione di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy.
Cancer Genetics and Cytogenetics
|August 8, 2002
Abstract:
We report a 46,XY 11-year-old girl with pure gonadal dysgenesis who developed a dysgerminoma. The testis-determining gene SRY, a candidate for sex reversal, whose alterations seem to correlate with dysgerminoma, was analyzed and found to be normal; its coding sequence was negative for deletions and mutations. DMRT-1 gene mapping on 9p and DAX-1 on Xp21 were also normal. These results suggest the involvement of other genes in sex reversal and call into question the putative relationship between SRY alterations and dysgerminoma.