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

doi:10.1016/s0165-4608(01)00662-8

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

Cancer Genet Cytogenet. 2002 Jul 1;136(1):58-61. doi: 10.1016/s0165-4608(01)00662-8.

Authors

Cristina Morerio¹, Vladimiro Calvari, Cristina Rosanda, Simona Porta, Claudio Gambini, Claudio Panarello

Affiliation

¹ Divisione di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy.

PMID: 12165453
DOI: 10.1016/s0165-4608(01)00662-8

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
DNA / analysis
DNA-Binding Proteins / genetics*
Drug Therapy
Dysgerminoma / drug therapy
Dysgerminoma / genetics*
Female
Gonadal Dysgenesis / genetics
Humans
Mutation
Nuclear Proteins*
Ovarian Neoplasms / drug therapy
Ovarian Neoplasms / genetics*
Sex Chromosomes
Sex-Determining Region Y Protein
Transcription Factors*

Substances

DNA-Binding Proteins
Nuclear Proteins
SRY protein, human
Sex-Determining Region Y Protein
Transcription Factors
DNA