XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene

Cristina Morerio, Vladimiro Calvari, Cristina Rosanda, Simona Porta, Claudio Gambini, Claudio Panarello

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)58-61
Number of pages4
JournalCancer Genetics and Cytogenetics
Volume136
Issue number1
DOIs
Publication statusPublished - Jul 1 2002

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Fingerprint Dive into the research topics of 'XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene'. Together they form a unique fingerprint.

  • Cite this