Y chromosome sequences in Turner's syndrome: Association with virilization and gonadoblastoma

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dc.contributor.authorMancilla, EE
dc.contributor.authorPoggi, H
dc.contributor.authorRepetto, G
dc.contributor.authorRumie, H
dc.contributor.authorGarcia, H
dc.contributor.authorUgarte, F
dc.contributor.authorHidalgo, S
dc.contributor.authorJara, A
dc.contributor.authorMuzzo, S
dc.contributor.authorPanteon, E
dc.contributor.authorTorrealba, I
dc.contributor.authorForadori, A
dc.contributor.authorCattani, A
dc.date.accessioned2024-01-10T13:09:58Z
dc.date.available2024-01-10T13:09:58Z
dc.date.issued2003
dc.description.abstractThe presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients. The putative gonadoblastoma gene has been mapped to the pericentromeric region of the Y chromosome increasing the interest in studying these sequences.
dc.description.abstractAims: 1. To determine the frequency of occult Y chromosome sequences in patients with Turner's syndrome. 2. To analyze the clinical implications of Y sequences detected by karyotype and occult Y sequences.
dc.description.abstractStudy design: Cross-sectional study of 58 patients with Turner's syndrome (30 45,X; two with structural anomalies; 26 mosaic [two of whom were 45,X/46,XY]). SRY, TSPY and DYZ3 sequences were amplified by PCR using genomic DNA from peripheral blood.
dc.description.abstractResults: All three Y chromosome sequences were found in one out of 56 patients whose karyotype was not suggestive of having Y chromosome material and in one patient with 45,X/46,Xr(X) karyotype. The patients with the ring chromosome and 45,X/46,XY karyotype underwent surgery and were found to have a gonadoblastoma and dysgerminoma. The four patients with Y chromosome material had non-virilized female genitalia.
dc.description.abstractConclusions: Analysis by PCR was more sensitive in detecting Y chromosome sequences than conventional karyotype. The presence of Y material was not associated with virilization. We confirmed the association of Y fragments and gonadoblastoma at early age.
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1515/jpem.2003.16.8.1157
dc.identifier.issn0334-018X
dc.identifier.pubmedidMEDLINE:14594176
dc.identifier.uri10.1515/jpem.2003.16.8.1157
dc.identifier.wosidWOS:000186126200010
dc.information.autorucMedicina;Foradori A;S/I;47695
dc.issue.numero8
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final1163
dc.pagina.inicio1157
dc.publisherFREUND PUBLISHING HOUSE LTD
dc.revistaJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
dc.rightsacceso restringido
dc.subjectY chromosome sequences
dc.subjectgonadal dysgenesis
dc.subjectvirilization
dc.subjectgonadoblastoma
dc.subjectdysgerminoma
dc.subjectPOLYMERASE CHAIN-REACTION
dc.subjectMARKER CHROMOSOMES
dc.subjectMOSAICISM
dc.subjectPCR
dc.subjectGONADS
dc.subjectRISK
dc.subjectDNA
dc.subjectDIAGNOSIS
dc.subjectBLOOD
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleY chromosome sequences in Turner's syndrome: Association with virilization and gonadoblastoma
dc.typeartículo
dc.volumen16
sipa.codpersvinculados47695
sipa.indexWOS
sipa.trazabilidadCarga SIPA;09-01-2024
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