TY - JOUR
T1 - XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene
AU - Morerio, Cristina
AU - Calvari, Vladimiro
AU - Rosanda, Cristina
AU - Porta, Simona
AU - Gambini, Claudio
AU - Panarello, Claudio
PY - 2002/7/1
Y1 - 2002/7/1
N2 - 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.
AB - 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.
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U2 - 10.1016/S0165-4608(01)00662-8
DO - 10.1016/S0165-4608(01)00662-8
M3 - Article
C2 - 12165453
AN - SCOPUS:0036648395
VL - 136
SP - 58
EP - 61
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
SN - 0165-4608
IS - 1
ER -