title: Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences.
abstract: Turner syndrome (TS) is a disorder caused by partial or complete X-chromosome monosomy. Studies in TS patients with different karyotypes have demonstrated the presence of Y-chromosome-derived sequences (4-61%). Early detection of Y-chromosome sequences in TS is of great importance because of the high risk of gonadal tumor development. We investigated the presence of Y-chromosome sequences in TS patients with a 45,X karyotype. One hundred seven unrelated 45,X Mexican TS patients recruited between 1992 and 2003 were included. Y-chromosome-derived sequences were found by polymerase chain reaction in 10 (9.3%) patients. Six subjects underwent gonadectomy and in one of them a gonadoblastoma was found; another developed a gonadoblastoma with dysgerminoma. Because of the high proportion (33%) of gonadal tumors in patients with Y-chromosome sequences found among our patients of mestizo origin, adequate counseling regarding a gonadectomy should be given.
authors.affiliation: Research Unit in Developmental Biology, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Cuauhtemoc Av 330, Col Doctores CP 06725, México, DF, México.
authors.forename: Patricia
authors.initials: P
authors.lastname: Canto
authors.forename: Susana
authors.initials: S
authors.lastname: Kofman-Alfaro
authors.forename: Ana Luisa
authors.initials: AL
authors.lastname: Jiménez
authors.forename: Daniela
authors.initials: D
authors.lastname: Söderlund
authors.forename: Consuelo
authors.initials: C
authors.lastname: Barrón
authors.forename: Edgardo
authors.initials: E
authors.lastname: Reyes
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Méndez
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D018238:Gonadoblastoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D009919:Orchiectomy; D010051:Ovarian Neoplasms / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*