ABSTRACT
OBJECTIVE: To evaluate the frequency and type of cardiovascular (CV) and renal/collecting system (R/CS) abnormalities seen in a sample of patients with Turner Syndrome (TS) and to verify the proportion of those anomalies detected only after diagnosis was established. METHODS: Retrospective study of 130 patients with TS diagnosed in an outpatient setting between 1989 and 2006. The mean age at diagnosis was 11.9 years. Data were obtained by personal history of CV and R/CS disorders and by results of echocardiogram and ultrasonography of the kidneys and collecting system performed after diagnosis. RESULTS: 25.6% of patients who underwent echocardiograms presented CV abnormalities. Among them, mitral regurgitation (21.4%), bicuspid aortic valve (19%) and aortic coarctation (19%) were the most frequent. R/CS anomalies were found in 29.3% of patients who underwent ultrasonography. Among them, duplication of the collecting system and hydronephrosis (25% each) and horseshoe kidney (21.2%) were the most frequent. In about 80% of cases there was no previous knowledge of these anomalies. CONCLUSION: The frequency of CV and R/CS abnormalities found in this study was similar to that of previous studies, but most were found in routine exams after TS diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.
Subject(s)
Heart Defects, Congenital/complications , Kidney/abnormalities , Turner Syndrome/complications , Adolescent , Adult , Chi-Square Distribution , Child , Child, Preschool , Early Diagnosis , Heart Defects, Congenital/genetics , Heart Valves/abnormalities , Humans , Infant , Karyotyping , Retrospective Studies , Turner Syndrome/genetics , Young AdultABSTRACT
OBJECTIVE: To evaluate the frequency and type of cardiovascular (CV) and renal/collecting system (R/CS) abnormalities seen in a sample of patients with Turner Syndrome (TS) and to verify the proportion of those anomalies detected only after diagnosis was established. METHODS: Retrospective study of 130 patients with TS diagnosed in an outpatient setting between 1989 and 2006. The mean age at diagnosis was 11.9 years. Data were obtained by personal history of CV and R/CS disorders and by results of echocardiogram and ultrasonography of the kidneys and collecting system performed after diagnosis. RESULTS: 25.6 percent of patients who underwent echocardiograms presented CV abnormalities. Among them, mitral regurgitation (21.4 percent), bicuspid aortic valve (19 percent) and aortic coarctation (19 percent) were the most frequent. R/CS anomalies were found in 29.3 percent of patients who underwent ultrasonography. Among them, duplication of the collecting system and hydronephrosis (25 percent each) and horseshoe kidney (21.2 percent) were the most frequent. In about 80 percent of cases there was no previous knowledge of these anomalies. CONCLUSION: The frequency of CV and R/CS abnormalities found in this study was similar to that of previous studies, but most were found in routine exams after TS diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.
OBJETIVO: Analisar a frequência e os tipos de anomalias cardiovasculares (CV) e de anomalias renais ou de sistema coletor (R/SC) em uma amostra de pacientes com síndrome de Turner (ST) e verificar a proporção dessas anomalias que só foram detectadas após o estabelecimento do diagnóstico. MÉTODOS: Estudo retrospectivo de 130 pacientes com ST diagnosticadas em serviço ambulatorial entre 1989 e 2006. A média de idade ao diagnóstico foi 11,9 anos. Foram coletados dados sobre antecedentes pessoais de anomalias CV e R/SC e resultados de ecocardiograma e ultrassonografia de rins e vias urinárias realizados após o diagnóstico. RESULTADOS: 25,6 por cento das pacientes submetidas ao ecocardiograma apresentavam anomalias CV. Dentre elas, as mais frequentes foram a insuficiência mitral (21,4 por cento), a valva aórtica bicúspide (19 por cento) e a coarctação da aorta (19 por cento). Anomalias R/SC foram observadas em 29,3 por cento das pacientes submetidas à ultrassonografia. Dentre elas, a duplicação do sistema coletor (25 por cento), a hidronefrose (25 por cento) e o rim em ferradura (21,2 por cento) foram as alterações mais frequentes. Em cerca de 80 por cento dos casos não havia conhecimento prévio dessas anomalias. CONCLUSÃO: A frequência de anomalias CV e anomalias R/SC verificada em nosso estudo foi semelhante à de outros trabalhos, mas a maioria só foi detectada em exames rotineiros após o diagnóstico de ST. A detecção precoce das anomalias associadas depende, portanto, do diagnóstico precoce dessa síndrome.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Humans , Infant , Young Adult , Heart Defects, Congenital/complications , Kidney/abnormalities , Turner Syndrome/complications , Chi-Square Distribution , Early Diagnosis , Heart Defects, Congenital/genetics , Heart Valves/abnormalities , Karyotyping , Retrospective Studies , Turner Syndrome/geneticsABSTRACT
Os autores descrevem o caso de um menino portador de síndrome de Down que, aos 8 anos de idade, desenvolveu quadro de hipertireoidismo por tireoidite auto-imune. Quatro meses após a introduçäo de levotiroxina, constatou-se que apresentava ainda diabetes mellitus insulino-dependente, que evoluiu com boa resposta à insulinoterapia. A associaçäo de síndrome de Down, diabetes mellitus e hipertiroidismo tem sido descrita na literatura em vários pacientes. Embora os sintomas do diabetes sejam facilmente indentificáveis, os do hipertireodismo podem ser mascarados pelas alteraçöes clínicas da própria síndrome, o que torna necessária a avaliaçäo periódica da funçäo tireoidiana
