A percepção da doença em portadoras da síndrome de Turner

Suzigan, Ligia Zuppi Conceição; Silva, Roberto B. Paiva e; Lemos-Marini, Sofia Helena Valente de; Baptista, Mónica; Guerra, Gil; Magna, Luís Alberto; Maciel‐Guerra, Andréa T.

doi:10.1590/s0021-75572004000500011

“…15 Besides that, it would be possible to initiate sex hormones replacement in the proper age, preventing osteopenia emergence 16 and the worsening of psychosocial problems. 17 However, although pediatricians must have a crucial role in early diagnosis formulation, the frequency with which it has been occurring in our milieu is lower than the one observed in world literature. For this situation, there might be, also, the contribution of the fact that they are less alert to other TS indicative signs other than SS.…”

Section: Methodsmentioning

confidence: 91%

Síndrome de Turner: um diagnóstico pediátrico frequentemente realizado por não pediatras

Carvalho¹,

Guerra²,

Baptista³

et al. 2010

J. Pediatr. (Rio J.)

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Objective: To analyze the clinical features of patients with suspected diagnosis of Turner syndrome (TS) in a reference service. Methods: Retrospective analysis of 425 patients: data pertaining to age, height and pubertal stage at diagnosis, as well as the specialty of the physician who referred the patient were collected. Patients with and without TS were compared, as well as those with TS according to specialty of the physician; the correlation between age and height at diagnosis was analyzed. Results: TS diagnosis was made in 36.9% of the cases with a mean age of 12.0 years, and height z score = 3.09; pubertal delay was found in 71.4% of the 63 patients aged more than 13 years. When compared to the other patients, girls with TS had a higher height deficit and higher frequency of pubertal delay. TS patients referred by pediatricians were significantly younger (9.3 years vs. 15.4 years), but their height and frequency of pubertal delay were similar to those referred by non-pediatricians. There was a significant negative linear correlation between age and height in the total amount of patients with TS, but not among those referred by non-pediatricians. Conclusions: Mean age at TS diagnosis is still higher than that observed in developed countries, and the presence of spontaneous pubertal signs and/or less pronounced growth deficit in some cases may contribute to delayed clinical suspicion of TS. Information required for early TS diagnosis must be spread among pediatricians and non-pediatricians.

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“…O diagnóstico precoce permitiria, ainda, que fossem submetidas a terapêutica com hGH para aumento da altura final -em nosso serviço, a média da altura final espontânea foi recentemente estimada em 144,8 cm 15 . Além disso, seria possível iniciar reposição de hormônios sexuais na idade adequada, evitando o surgimento de osteopenia 16 e o agravamento dos problemas psicossociais 17 .…”

Section: Discussionunclassified

Turner syndrome: a pediatric diagnosis frequently made by non-pediatricians

Carvalho¹,

Guerra²,

Baptista³

et al. 2010

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Objective: To analyze the clinical features of patients with suspected diagnosis of Turner syndrome (TS) in a reference service.Methods: Retrospective analysis of 425 patients: data pertaining to age, height and pubertal stage at diagnosis, as well as the specialty of the physician who referred the patient were collected. Patients with and without TS were compared, as well as those with TS according to specialty of the physician; the correlation between age and height at diagnosis was analyzed.Results: TS diagnosis was made in 36.9% of the cases with a mean age of 12.0 years, and height z score = -3.09; pubertal delay was found in 71.4% of the 63 patients aged more than 13 years. When compared to the other patients, girls with TS had a higher height deficit and higher frequency of pubertal delay. TS patients referred by pediatricians were significantly younger (9.3 years vs. 15.4 years), but their height and frequency of pubertal delay were similar to those referred by nonpediatricians. There was a significant negative linear correlation between age and height in the total amount of patients with TS, but not among those referred by non-pediatricians. Conclusions:Mean age at TS diagnosis is still higher than that observed in developed countries, and the presence of spontaneous pubertal signs and/or less pronounced growth deficit in some cases may contribute to delayed clinical suspicion of TS. Information required for early TS diagnosis must be spread among pediatricians and nonpediatricians.J Pediatr (Rio J). 2010;86(2):121-125: Growth disorders, hypogonadism, chromosome aberrations, early diagnosis. ResumoObjetivo: Analisar as características clínicas de pacientes com suspeita de síndrome de Turner (ST) em um serviço de referência.Métodos: Análise retrospectiva de 425 pacientes. Foram colhidos dados de idade, estatura e estádio puberal no momento do diagnóstico, bem como da especialidade do médico que encaminhou a paciente. Comparação das pacientes com e sem ST e daquelas com ST de acordo com a especialidade e análise de correlação entre estatura e idade ao diagnóstico.Resultados: O diagnóstico de ST foi feito, em 36,9% dos casos, com média de idade de 12,0 anos e escore z da estatura = -3,09; havia atraso puberal em 71,4% das 63 pacientes maiores de 13 anos. Comparadas às demais, as meninas com ST apresentavam maior deficit na estatura e maior frequência de atraso puberal. Pacientes com ST encaminhadas por pediatras eram significativamente mais jovens (9,3 anos versus 15,4 anos), porém com estatura e frequência de atraso puberal semelhantes às daquelas encaminhadas por não pediatras. Houve correlação linear negativa significativa entre idade ao diagnóstico e estatura no total de pacientes com ST, mas não entre as encaminhadas por não pediatras. Conclusões:A média de idade ao diagnóstico da ST ainda é superior àquela dos países desenvolvidos, e a presença de sinais puberais espontâneos e/ou de deficit de crescimento menos acentuado em algumas pacientes pode contribuir para o atraso na suspeita clínica. ...

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“…Otra característica ampliamente descripta en la literatura es la difi cultad de las mujeres con diagnóstico de ST para interactuar con sus pares, asociada a una baja autoestima, inmadurez emocional y ansiedad social (Danielewicz & Pisula, 2005;Mazzocco, 2006;Suzigan et al, 2004). A este respecto Sutton et al (2005) expresa que la existencia de un estigma social asociado a la baja estatura es percibido por las niñas y adolescentes con diagnóstico de ST como una fuente de estrés.…”

Section: Scholar Stress Perceptions and Cortisol Circadian Rhythm In unclassified

Percepción de estrés escolar y ritmo circadiano de cortisol en el Síndrome de Turner

López¹,

Aguilar²,

Zabaletta³

2014

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ResumenEl Síndrome de Turner corresponde a uno de los trastornos cromosómicos, no heredables, con mayor incidencia poblacional. Las particularidades físicas, neuropsicológicas y psicosociales, relacionadas con la expresión del síndrome, posicionan a las mujeres con este diagnóstico como una población potencialmente vulnerable al estrés. El objetivo del trabajo fue analizar comparativamente dos medidas de estrés en niñas y adolescentes con diagnóstico de Síndrome de Turner, la percepción de estrés a través del Cuestionario para el estrés escolar y la pendiente circadiana de cortisol por determinación de cortisol salival. El análisis de los datos del cuestionario dio cuenta de valores de estrés escolar medios y bajos. Sin embargo, en la totalidad de las participantes se observó alteración de la pendiente de cortisol con valores vespertinos altos, independiente de la etapa de desarrollo puberal, del cariotipo y de los tratamientos hormonales que recibían al momento del estudio. Estos resultados, si bien limitados debido al tamaño de la muestra, podrían relacionarse con la morfología cerebral atípica reportada para esta población en ciertas estructuras corticales y subcorticales. Asimismo, las diferencias encontradas entre las medidas objetiva y subjetiva de estrés podrían deberse a que los altos niveles de cortisol generan difi cultades en procesos cognitivos por lo que la percepción de las señales de alerta se encontrarían disminuidas o anuladas en esta población, restándoles la posibilidad de responder a estímulos potencialmente peligrosos.Palabras clave: Síndrome de Turner, estrés escolar, pendiente circadiana de cortisol Percepção de Estresse Escolar e Ritmo Circadiano de Cortisol na Sindrome de Turner ResumoA Síndrome de Turner é um dos transtornos cromossômicos, não herdáveis, com maior incidência na população. As particularidades físicas, neuropsicológicas e psicossociais, relacionadas com a expres-1

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A percepção da doença em portadoras da síndrome de Turner

Cited by 5 publications

References 18 publications

Síndrome de Turner: um diagnóstico pediátrico frequentemente realizado por não pediatras

Síndrome de Turner: um diagnóstico pediátrico frequentemente realizado por não pediatras

Turner syndrome: a pediatric diagnosis frequently made by non-pediatricians

Percepción de estrés escolar y ritmo circadiano de cortisol en el Síndrome de Turner

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