Navegando por Palavras-chave "Diferenciação sexual"

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    Determinação do fenótipo sexual em uma criança com Mosaicismo 45,X/46,X,Idic(Yp): importância da proporção relativa da linhagem 45,X no tecido gonadal
    (Universidade Federal de São Paulo (UNIFESP), 2006-12-31) Guedes, Alexis Dourado [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    We report here on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome [UTS], except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization [FISH] and polymerase chain reaction [PCR] to detect Y-specific sequences. These analyses allowed us to characterize the Yderived chromosome as being an isodicentric Yp chromosome [idic(Yp)] and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%).
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    Disgenesias gonadais e tumores: aspectos genéticos e clínicos
    (Sociedade Brasileira de Endocrinologia e Metabologia, 2005-02-01) Lipay, Mônica V. Nunes [UNIFESP]; Bianco, Bianca Alves Vieira [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors. Gonadoblastoma, a mixed germ cell and sex-cord cells tumor with variable degree of focal calcification, is the most harmful due to its frequency. Other gonadal tumor, maligns or not, also occur in gonadal dysgenesis. As they are not metastatic tumors and may be eradicated by selective excisions, the importance of detecting Y-sequences by molecular sensitized techniques is stressed in order to indicate prophylactic gonadectomy.
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    A importância dos aspectos éticos e psicológicos na abordagem do intersexo
    (Sociedade Brasileira de Endocrinologia e Metabologia, 2005-02-01) Spinola-Castro, Angela Maria [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    The treatment of intersex disorders has passed through different historical periods. The most important was the age of surgery, during which the dominant concept was that at birth the brain would be adaptable, psychosexually neutral and gender identity the result of educational and social processes. Thus, the preferred and systematic treatment was towards female assignment because from the surgical point of view it was technically more feasible the construction of a vagina than a penis with future normal function. During the 90 s various other aspects began to be considered, mainly ethical questions. It became evident the importance of prenatal exposition to androgens, the various environmental and cultural factors related to sexuality and more recently the recognition of the brain as an endocrine organ. It is now quite clear the existence of a wide spectrum of sexual identities as well as the different ways individuals conduct their social sexual behavior. Surgical procedures are still discussed, especially with the purpose to determine the best moment to be performed and in the context of some ethical aspects involved. Today the moment is more complex. The work is done with families by multidisciplinary teams in order to offer a more adequate psychosocial orientation to intersex patients, but all the steps on how to achieve those aims are not known yet.