Navegando por Palavras-chave "gonadoblastoma"

Agora exibindo 1 - 2 de 2
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases
    (Elsevier B.V., 2011-12-01) Campoy Rocha, Vanessa Brito; Guerra-Junior, Gil; Marques-de-Faria, Antonia Paula; Mello, Maricilda Palandi de [UNIFESP]; Maciel-Guerra, Andrea Trevas; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)
    Objective: To determine the frequency of XY karyotypes among females with complete gonadal dysgenesis (CGD) and to investigate the frequency of both gonadal tumors and SRY mutations.Design: Retrospective study based on data from all patients with CGD seen in our service from 1989 to 2010.Setting: Clinic for disorders of sex development, University Hospital, State University of Campinas.Patient(s): Thirty-two patients with hypergonadotropic hypogonadism, streak gonads, internal and external female genitalia, and normal karyotype (46, XX or 46, XY); 31 were index cases and 29 did not have a previously determined karyotype.Intervention(s): None.Main Outcome Measure(s): None.Result(s): the percentage of XY karyotypes among patients with CGD was 34.5% (10/ 29). Mean age at diagnosis among XYand XX patients was 17.4 years and 19.9 years, respectively. Gonadal tumors were found in 4 of 9 XY girls, and 7 of 10 had SRY gene mutations.Conclusion(s): the previously unreported finding of an elevated frequency of 46, XY karyotype among patients with CGD and the high risk of gonadal neoplasia in such cases indicate that this diagnosis must be kept in mind by clinicians and strengthen the importance of karyotype analysis in females with primary hypogonadism. in addition, the frequency of SRY mutations in XY CGD might be higher than previously considered. (Fertil Steril (R) 2011; 96: 1431-4. (C) 2011 by American Society for Reproductive Medicine.)
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case
    (Csiro Publishing, 2014-01-01) Sales Bispo, Adriana Valeria; Buregio-Frota, Pollyanna; Santos, Luana Oliveira dos; Leal, Gabriela Ferraz; Duarte, Andrea Rezende; Araujo, Jacqueline; Silva, Vanessa Cavalcante da [UNIFESP]; Cartaxo Muniz, Maria Tereza; Liehr, Thomas; Santos, Neide; Universidade Federal de Pernambuco (UFPE); Inst Med Integral Prof Fernando Figueira IMIP; Hosp Oswaldo Cruz UPE; Universidade Federal de São Paulo (UNIFESP); Inst Ciencias Biol; Univ Jena
    Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. in 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. the presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. the presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.