title: XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.
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.
authors.affiliation: Divisione di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Morerio
authors.forename: Vladimiro
authors.initials: V
authors.lastname: Calvari
authors.forename: Cristina
authors.initials: C
authors.lastname: Rosanda
authors.forename: Simona
authors.initials: S
authors.lastname: Porta
authors.forename: Claudio
authors.initials: C
authors.lastname: Gambini
authors.forename: Claudio
authors.initials: C
authors.lastname: Panarello
mesh_terms: D002648:Child; D004247:DNA / Q000032:analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004358:Drug Therapy; D004407:Dysgerminoma / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins; D010051:Ovarian Neoplasms / Q000188:drug therapy / Q000235:genetics*; D012730:Sex Chromosomes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D004247:DNA