Navegando por Palavras-chave "Turner Syndrome"
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- ItemAcesso aberto (Open Access)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%).
- ItemSomente MetadadadosEstatura final em pacientes com Síndrome de Turner tratadas com hormônio de crescimento(Universidade Federal de São Paulo (UNIFESP), 2020-04-30) Ferro, Joao Leonardo [UNIFESP]; Silva, Magnus Regios Dias Da [UNIFESP]; Universidade Federal de São PauloObjective: To analyze the final height (EF) in women with Turner syndrome (ST) treated with growth hormone (GH) and to identify predictors of a better response to GH. Method: Retrospective study including 107 karyotypeconfirmed TS patients who reached adult height and were divided into the groups receiving GH (68) and not receiving GH (NGH: 39) while clinically monitored at the Outpatient Clinic. The GH dose used was 50 μg / kg / day (0.15U / kg / day). Initial height, target height (AE), age at onset, duration of GH treatment, growth velocity, EF, age at onset of estrogen replacement, and respective Z-score values for height were collected. Results: The EF of the ST patients treated with GH (145.9cm ± 6.0) was not statistically different from that found in the NGH group (144.4cm ± 7.0). However, the TS subgroup whose parents were lower (stratified within AE <158.5 cm) had a greater benefit with GH than the subgroup with higher parents (AE <158.5 cm: EF 145.6 cm in the GH group vs. 140.3 cm in the NGH (p = 0.002, while EA> 158.5 cm: EF 147.3 cm in the GH group vs. 147.3 cm in the NGH; p = 0.75). The use of GH in patients with lower AE also showed better gain in the EF Zscore (-2.6 vs. -3.5; p <0.001), considering the same time of medication use. Conclusion: Our cohort of patients with TS who used GH and had a target height <158.5 cm had greater benefit with the medication in the final height gain. Besides, we observed that delayed initiation of estrogen replacement might have contributed to achieving a better final height in ST patients who did not receive GH.
- ItemAcesso aberto (Open Access)O hormônio de crescimento na síndrome de Turner: dados e reflexões(Sociedade Brasileira de Endocrinologia e Metabologia, 2008-07-01) Guedes, Alexis Dourado [UNIFESP]; Bianco, Bianca Alves Vieira [UNIFESP]; Callou, Emmanuela Q. [UNIFESP]; Gomes, Ana Luíza [UNIFESP]; Lipay, Mônica V. N. [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsuficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient, the GHr therapy improves the final height. Recently, a great number of publications have described the association between GH and cancer. The cancer risk, in these patients, is mainly associated with the presence of Y chromosome sequences that can lead to the gonadoblastoma development. In conclusion, the GHr therapy in ST patients deserves caution. The investigation of Y chromosome sequences should be performed as well as the prophylactic gonadectomy in the positive cases conferring confidence to the treatment.
- ItemSomente MetadadadosIdentificação de região correspondente ao gene determinante do sexo no cromossomo Y (SRY) em pacientes com síndrome de Turner através de reação em cadeia por polimerase(Universidade Federal de São Paulo (UNIFESP), 1996) Strufaldi, Maria Wany Louzada [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
- ItemSomente MetadadadosMarcadores moleculares do cromossomo Y em DNA de mucosa oral e sangue periferico de pacientes com Síndrome de Turner(Universidade Federal de São Paulo (UNIFESP), 2020-08-05) Barbosa, Lene Garcia [UNIFESP]; Castro, Angela Maria Spinola E [UNIFESP]; Universidade Federal de São PauloConsidering the high percentage of mosaicism and the possible clinical impact of the presence of fragments of the Y chromosome in patients with Turner Syndrome, we proposed in this study to develop a multiplex polymerase chain reaction (mPCR) to evaluate the presence of these fragments in two tissues with origin different embryonic cells, such as peripheral blood lymphocytes (mesoderm) and oral mucosa cells (ectoderm). DNA samples were collected from 109 patients. Primers for mPCR were built with the help of the MPprimer program to assess possible interactions between them. Two genes present on the Y chromosome and one on the X were used. The amplified samples were evaluated by conventional electrophoresis on 1.8% agarose gel and subsequently by capillary electrophoresis. We found 14 patients (12.8%) with positive molecular markers for Y chromosome, both in the blood and in the oral mucosa swab. The karyotype showed a sensitivity of 95.8%, but a specificity of 28.6% in relation to the molecular test. In conclusion, the mPCR protocol established in this study, combined with capillary electrophoresis, proved to be efficient for identifying Y fragments and must be used in the outpatient routine. The study of tissues of different embryological origin, such as blood and oral tissue obtained the same degree of agreement, as well as the same sensitivity and specificity.
- ItemAcesso aberto (Open Access)Ossificação do ligamento estilo-hióideo : uma causa comum de otalgia em mulheres Turner(Universidade Federal de São Paulo (UNIFESP), 2018-05-24) Rossinol, Vinicius Loures [UNIFESP]; Silva, Magnus Regios Dias da [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Monteagudo, Patrícia Teófilo [UNIFESP]; Ieda Therezinha do Nascimento Verreschi : http://lattes.cnpq.br/4204094269594686; Patrícia Teófilo Monteagudo : http://lattes.cnpq.br/1918304238822432; http://lattes.cnpq.br/2598816440086436; http://lattes.cnpq.br/9840798103274079; Universidade Federal de São Paulo (UNIFESP)Otalgia é uma queixa bem documentada em mulheres que sofrem de síndrome de Turner (ST). Nós hipotetizamos que, com base em um caso de índice de TS com uma longa história de dor de ouvido diagnosticada com calcificação de ligamento estillo-hióideo (CLS), conhecida por síndrome de Eagle (SE), a CLS seria comum na população com ST frequentemente tratada como otite. Este estudo teve como objetivo verificar se SE é uma das causas da otalgia em ST. MÉTODOS: analisamos 96 pacientes com ST consecutivas e 55 mulheres controle (MC). Se após a avaliação de uma paciente com ST verificássemos otalgia e/ou palpação dolorosa de palatina tonsilar, sugestivo de CLS, elas eram submetidas a Rx facial ou TC de crânio 3-D para confirmar CLS. RESULTADOS: Trinta e quatro pacientes com ST (35%) apresentaram quadro clínico de SE e 27 (28,1%) foram confirmadas radiologicamente. Dentre estas, 14 (51,9%) foram tratadas como otite recorrente devido à otalgia. Onze das pacientes com ST e SE (26,1%) tinham menos de 21 anos de idade. Não houve associação entre o diagnóstico de SE e o cariótipo, idade, índice de massa corporal e duração do uso de hormônio de crescimento. Dez mulheres controles (18,2%) queixaram-se de sintomas de SE; no entanto, apenas 4 (7,3%) confirmaram o diagnóstico de SLC (controles vs TS, p <0,01) radiologicamente e nenhum delas tinha menos de 21 anos. SE ocorreu mais em idades mais jovens na ST do que entre controles (p <0,002). CONCLUSÃO: SE é mais prevalente na ST do que nos controles, e esta ocorre em idades mais jovens. A SE deve ser avaliada como morbidade comum na ST em qualquer idade, especialmente durante a infância, como diagnóstico diferencial ao avaliar a otalgia.