Made available in DSpace on 2014-06-11T19:28:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2002Bitstream added on 2014-06-13T18:32:25Z : No. of bitstreams: 1 macedo_ds_me_botfm.pdf: 1047806 bytes, checksum: bcf216c1db1d87e657a075f0c4382ec9 (MD5) / As disfunções tireoidianas ocorrem com maior freqüência nos pacientes com Síndrome de Down (SD) do que na população em geral. Os estudos sobre crescimento físico em crianças com SD e disfunção tireoidiana são controversos; alguns autores referem menor crescimento em pacientes com hipotireoidismo compensado, enquanto outros não confirmam estes achados. Portanto, avaliar e monitorizar a função tireoidiana e o crescimento físico de crianças com SD é de extrema importância e foi o que motivou o presente estudo, o qual teve como objetivo investigar a freqüência das disfunções tireoidianas e a evolução das mesmas em pacientes com SD, avaliar o crescimento pondero-estatural das crianças com SD, comparar os percentis de peso e estatura, a velocidade de crescimento e o escore Z E/I e P/I nos pacientes SD com e sem disfunção tireoidiana. CASUÍSTICA E MÉTODO - Estudo envolvendo 43 crianças diagnosticadas como SD no Serviço de Aconselhamento Genético da UNESP - Botucatu, no período de 1996 - 2000. Os pacientes foram estudados por um período mínimo de 9 meses, com avaliação da função tireoidiana pelas dosagens de tiroxina livre e tireotrofina no início e no final do estudo e com avaliação de peso e estatura no início, meio e fim do estudo. Conforme o diagnóstico da função tireoidiana ao final do estudo, foram constituídos 2 grupos: normal ou disfunção. RESULTADOS - A amostra foi homogênea quanto ao sexo, 72% dos pacientes tinham menos de três anos de idade e 23% eram portadores de cardiopatia acianogênica. A trissomia livre do cromossomo 21 ocorreu em 98% dos casos. No início do estudo, 67,4% dos pacientes apresentaram hipotireoidismo compensado, 7% hipotireoidismo adquirido, e um paciente tinha hipertireoidismo. No final do estudo... / Thyroid dysfunction occurs more frequently in patients with Down syndrome (DS) than in the general population. Studies on physical growth in children with DS and thyroid dysfunction are controversial; some report lower growth rates in patients with compensated hypothyroidism while others do not confirm these findings. Therefore, the assessment and monitoring of thyroid function and physical growth in children with DS are of great importance. The purpose of the present study was to investigate the frequency and development of thyroid dysfunction, to assess weight/height changes, and compare weight and height percentiles, growth rate and both E/I and P/I Z-scores in DS patients with and without thyroid dysfunction. CASES AND METHODS: This study included 43 children, who were diagnosed as having DS at the Genetic Counseling Service, UNESP-Botucatu, between 1996 and 2000. The patients were followed up from 9 to 36 months. Thyroid function was assessed by measuring the levels of thyroxin and thyrotrophin at the beginning and at the end of the study while weight and height were assessed at the beginning, halfway and at the end of the study. According to the diagnosis of thyroid function at the end of the study, the patients were assigned either to the normal group or the dysfunction group. RESULTS: The study sample was homogeneous regarding sex. Seventy-two percent of the patients were less than 3 years of age and 23% displayed acyanogenic cardiopathy. Free trisomy of chromosome 21 occurred in 98% of the cases. At the beginning of the study, 67.4% of the patients showed compensated hypothyroidism, 7% exhibited acquired hypothyroidism and one had hyperthyroidism. At the end of the study, 53.5% of hypothyroidism was observed while the frequency of the remaining disorders remained unchanged. Of the 29 cases of compensated hypothyroidism... (Complete abstract click electronic address below)