AIMS: Previous studies have shown that two partially overlapping mechanisms are responsible for the development of @entity43 ( @entity43 ): either spontaneous mutations, mostly in @entity2467 gene, or the presence of Y chromosome material, in dysgenetic gonads. While unilateral oophorectomy and preservation of fertility is favourable in most cases, presence of whole or part of Y chromosome in dysgenetic ovaries is associated with a risk of bilateral @entity5 development. The aim of this study was to evaluate the frequency of Y chromosome material in these @entity5 . METHODS: A total of 47 cases with histopathologic diagnosis of @entity5 were selected in a period of 9 years. A relative quantitative PCR (RQ-PCR) method was designed and validated to detect @entity16439 ( @entity16439 ) gene on Y chromosome. After DNA extraction, @entity16439 gene was sought as a surrogate of Y chromosome. RESULTS: Significant amounts of @entity16439 gene were found in seven cases, two of which had @entity5712 and one had cytogenetic proof of Y chromosome presence. CONCLUSIONS: Some MOGCTs develop on the background of gonadal mosaicism and @entity444 . Bilateral oophorectomy may be indicated in @entity1 with these disorders because they are at risk of developing an @entity43 on the contralateral gonad. Moreover, this @entity2008 is hardly found by routine methods, and the abnormality is more easily sought in @entity43 cells by means of RQ-PCR.

XXXX in gonadal Y chromosome mosaicism.

@entity43 :: ('MESH:D010051', 'Disease') :: ['MOGCT', 'malignant ovarian germ cell tumours'] @entity1 :: ('9606', 'Species') :: ['patients'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['chromosomal abnormality'] @entity5 :: ('MESH:D009369', 'Disease') :: ['malignant germ cell tumour', 'germ cell tumour', 'tumours'] @entity2467 :: ('3815', 'Gene') :: ['KIT'] @entity5712 :: ('MESH:D018238', 'Disease') :: ['gonadoblastoma'] @entity16439 :: ('7258', 'Gene') :: ['TSPY', 'testis-specific protein Y-encoded'] @entity444 :: ('MESH:D006059', 'Disease') :: ['gonadal dysgenesis']
@entity43 :: (MESH:D010051,Disease) :: ['Malignant ovarian germ cell tumours']
