Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/1755
Title: Diagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008
Other Titles: Diagnosis of Turner’s Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008
Authors: Jung, Monica de Paula
Amaral, Jorge Luiz do
Fontes, Rosita Gomes
Costa, Aline Teixeira da
Wuillaume, Susana Maciel
Cardoso, Maria Helena Cabral de Almeida
Affilliation: Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione. Rio de Janeiro, RJ, Brasil.
Hospital Geral da Santa Casa de Misericórdia. Rio de Janeiro, RJ, Brasil.
Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.
Abstract: Objetivos: descrever a experiência no diagnóstico da Síndrome de Turner (ST), focalizando a distribuição dos cromossomos, a idade, os sinais e sintomas característicos, conforme as fases da vida (lactância, infância, adolescência e adulta). Métodos: estudo descritivo com 178 pacientes, atendidos de 1970 até 2008. Para análise estatística das diferenças percentuais usou-se o Epi-Info-2000 e para as diferenças entre as médias de idades o teste t de Student e o ANOVA. Resultados: os cariótipos encontrados foram: 79 com 45,X (35,4%), 36 com isocromossomo Xq (20,2%) e 63 com outros mosaicos (35,4%). A média de idade do diagnóstico foi de 12,6 anos, sendo menor naquelas com 45,X. Tiveram o diagnóstico feito na lactância 11,3% das pacientes, 25,3% na infância, 51,1% na adolescência e 12,4% na fase adulta. Daquelas diagnosticadas antes dos cinco anos de idade, 70,6% apresentaram 45,X. Os sinais que levaram à suspeita diagnóstica na lactância foram o pescoço alado e o linfedema congênito de pés/mãos associados às dismorfias típicas; na infância e adolescência foi a baixa estatura. Cubitus valgus foi encontrado em 72,5% das pacientes e orelhas anômalas em 65% das pacientes diagnosticadas com menos de um ano de idade. Conclusão: o diagnóstico da ST é desnecessariamente atrasado, levando-se em consideração que algumas características típicas podem já estar presentes desde o nascimento.
Abstract: Objectives: to describe the Rio de Janeiro State Institute of Diabetes and Endocrinology’s experience in diagnosing Turner Syndrome (TS), focusing on the distribution of chromosomes, age, and typical signs and symptoms, according to life stage (breast feeding, childhood, adolescence and adulthood). Methods: a descriptive study was conducted of 178 patients, attending the Institute between 1970 and 2008 for the purposes of statistical analysis of the percentage differences using Epi-Info-2000 and of the differences between the mean ages using Student’s t test and ANOVA Results: the caryotypes found were: 79 with 45,X (35.4%), 36 with isochromosome Xq (20.2%) and 63 with other mosaics (35.4%). The mean age on diagnosis was 12.6 years, this figure being lower in patients with 45,X. The syndrome was diagnosed during breast feeding in 11.3% of patients, during childhood in 25.3%, during adolescence in 51.1%, and in 12.4% in adulthood. In those diagnosed before the age of five years, 70,6% had 45,X, signs that led to a suspected diagnosis during breast feeding were a webbed neck and congenital lymphedema in the hands and feet associated with typical dysmorphias. In childhood and adolescence the sign was short stature. Cubitus valgus was found in 72.5% of patients and abnormal ears in 65% of those diagnosed at an age of less than one year. Conclusion: diagnosis of TS does not necessarily have to be late, as some typical characteristics may already be present at birth.
Keywords: Síndrome de Turner
Diagnóstico
Caracteres Sexuais
Cariótipo
Keywords: Turner syndrome
Diagnosis
Sex characteristics
Karyotype
DeCS: Síndrome de Turner - diagnóstico
Síndrome de Turner - complicações
Caracteres Sexuais
Issue Date: 2010
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Citation: JUNG, Monica de Paula et al. Diagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008. Rev. Bras. Saúde Matern. Infant., Recife, v. 10, n. 1, p. 117-124, jan./mar. 2010.
DOI: 10.1590/S1519-38292010000100012
ISSN: 1806-9304
Copyright: open access
Appears in Collections:IFF - Artigos de Periódicos

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