Abstract

COPELLI, SB. Turner Syndrome: Gonadal Tumor Risk in Patients with Y Chromosome Sequences. Rev. argent. endocrinol. metab. [online]. 2012, vol.49, n.4. ISSN 1851-3034.

In this review, we show that the existence of Y chromosome sequences in women with Turner syndrome is a risk factor for the development of gonadoblastoma, especially if it is present in the karyotype of patients in mosaic and / or as hidden sequences. In the literature, controversial results have been found in epidemiological studies of cancer, in cases with gonadoblastoma or other ovarian malignancies in Turner syndrome. In addition, some women have Y sequences in mosaicism but do not develop gonadal tumors. A population of 282 Argentinean patients with Turner syndrome was evaluated for the presence of hidden Y chromosome material (mosaicism) by PCR and in 8 of these patients (2.83 %) with Y chromosome sequences, gonadoblastoma was found after removal of the gonad. In the literature, hidden Y chromosome material (mosaics) is often high in Turner syndrome, but the appearance of gonadoblastoma among patients with these sequences appears to be low. It is important to note that SRY gene sequences could only be studied as a marker of mosaicism in patients with Turner syndrome, because the locus for gonadoblastoma / dysgerminoma, probably is near the centromere far away from SRY gene. Recent publications suggest that the actual risk assessment of gonadal tumor development in patients with TS with Y-derived sequences in their chromosome constitution may require a specific histopathology, such as OCT4 immunohistochemistry. Therefore, it is clear that the removal of the gonads is still an important tool for prevention in patients with Turner syndrome, when Y chromosome sequences are found. No financial conflicts of interest exist.

Keywords : Turner syndrome; Y chromosome; Mosaicism; Gonadoblastoma.

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