Prevalência de sequências do Y e de gonadoblastoma em síndrome de Turner

Sybert, 2004, Turner's syndrome, N Engl J Med., 351, 1227, 10.1056/NEJMra030360 Santos, 2010, Turner syndrome. From child to adult… A multidisciplinary approach, Acta Med Port., 23, 873 Barros, 2009, A inclusão de novas técnicas de análise citogenética aperfeiçoou o diagnóstico cromossômico da síndrome de Turner, Arq Bras Endocrinol Metab., 53, 1137, 10.1590/S0004-27302009000900010 Lipay, 2005, Gonadal dysgenesis and tumors: genetic and clinical features, Arq Bras Endocrinol Metab., 49, 60, 10.1590/S0004-27302005000100008 Mohamed S, Roche EF, Hoey HM. Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single‐centre experience. J Pediatr Endocrinol Metab; Epub 2014. Kanakatti Shankar, 2014, Oophorectomy versus salpingo‐oophorectomy in Turner syndrome patients with Y‐chromosome material: clinical experience and current practice patterns assessment, J Pediatr Surg., 49, 1585, 10.1016/j.jpedsurg.2014.06.012 Matsumoto, 2014, Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material, Clin Pediatr Endocrinol., 23, 93, 10.1297/cpe.23.93 Oliveira, 2009, Y chromosome in Turner syndrome: review of the literature, Sao Paulo Med J., 127, 373, 10.1590/S1516-31802009000600010 Bianco, 2006, Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma, J Pediatr Endocrinol Metab., 19, 1113, 10.1515/JPEM.2006.19.9.1113 Bianco, 2008, Clinical implications of the detection of Y‐chromosome mosaicism in Turner's syndrome: report of 3 cases, Fertil Steril., 90, e17 Bianco, 2009, SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome, Int J Gynecol Pathol., 28, 197, 10.1097/PGP.0b013e318186a825 Bianco, 2010, OCT4 gonadal gene expression related to the presence of Y‐chromosome sequences in Turner syndrome, Fertil Steril., 94, 2347, 10.1016/j.fertnstert.2010.02.036 Barros, 2011, OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences, Hum Reprod., 26, 3450, 10.1093/humrep/der310 Araujo, 2008, Molecular identification of chromosome Y sequences in Brazilian patients with Turner syndrome, Gynecol Endocrinol., 24, 713, 10.1080/09513590802444142 Bispo, 2014, Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case, Reprod Fertil Dev., 26, 1176, 10.1071/RD13207 Mazzanti, 2005, Gonadoblastoma in Turner syndrome and Y‐chromosome‐derived material, Am J Med Genet A., 135, 150, 10.1002/ajmg.a.30569 Semerci, 2007, Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method, Tohoku J Exp Med., 211, 243, 10.1620/tjem.211.243 Sallai, 2010, Y‐chromosome markers in Turner syndrome: screening of 130 patients, J Endocrinol Invest., 33, 222, 10.1007/BF03345783 Cortés-Gutiérrez, 2012, Molecular detection of cryptic Y‐chromosomal material in patients with Turner syndrome, Oncol Rep., 28, 1205, 10.3892/or.2012.1916 Freriks, 2013, Buccal cell FISH and blood PCR‐Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome, Eur J Med Genet., 56, 497, 10.1016/j.ejmg.2013.07.008 Knauer-Fischer, 2015, Analyses of Gonadoblastoma Y (GBY)‐locus and of Y centromere in Turner syndrome patients, Exp Clin Endocrinol Diabetes., 123, 61 Harley, 2003, The molecular action and regulation of the testis‐determining factors, SRY (sex‐determining region on the Y chromosome) and SOX9 [SRY‐related high‐mobility group (HMG) box 9], Endocr Rev., 24, 466, 10.1210/er.2002-0025 Salo, 1995, Molecular mapping of the putative gonadoblastoma locus on the Y chromosome, Genes Chromosomes Cancer., 14, 210, 10.1002/gcc.2870140309 Tsuchiya, 1995, Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome, Am J Hum Genet., 57, 1400 Hildenbrand, 1999, Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y‐derived marker chromosome, J Pathol., 189, 623, 10.1002/(SICI)1096-9896(199912)189:4<623::AID-PATH475>3.0.CO;2-# Maciel-Guerra, 2012, The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies, Arq Bras Endocrinol Metabol., 56, 545, 10.1590/S0004-27302012000800014 Canto, 2004, Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences, Cancer Genet Cytogenet., 150, 70, 10.1016/j.cancergencyto.2003.08.011 Zelaya, 2014, López Marti JM, Marino R, García de Dávila MT, Gallego MS. Gonadoblastoma in patients with ullrich‐turner syndrome, Pediatr Dev Pathol., 18, 117, 10.2350/14-08-1539-OA.1 Alvarez-Nava, 2003, Molecular analysis in Turner's syndrome, J Pediatr., 142, 336, 10.1067/mpd.2003.95 Gravholt, 2000, Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study, J Clin Endocrinol Metab., 85, 3199 López, 1998, Frequency of Y chromosomal material in Mexican patients with Ullrich‐Turner syndrome, Am J Med Genet., 76, 120, 10.1002/(SICI)1096-8628(19980305)76:2<120::AID-AJMG3>3.0.CO;2-X Cheng, 2007, OCT4: biological functions and clinical applications as a marker of germ cell neoplasia, J Pathol., 211, 1, 10.1002/path.2105