Síndrome de Turner: el riesgo de tumores gonadales en pacientes con secuencias del cromosoma Y Turner Syndrome: Gonadal Tumor Risk in Patients with Y Chromosome Sequences
SB Copelli
Abstract
SB Copelli
Abstract
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 epidemiologi- cal 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
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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 epidemiologi- cal 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
Key concepts: Gonadoblastoma, Turner syndrome, Y chromosome, Karyotype, Gonadal dysgenesis, X chromosome, Gonad, Gynecology