{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T12:13:22Z","timestamp":1684325602713},"reference-count":31,"publisher":"FapUNIFESP (SciELO)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:p>OBJETIVO: Avaliar a etiologia, no primeiro atendimento, dos casos de hipotireoidismo cong\u00eanito prim\u00e1rio (HCP) identificados pelo Programa de Triagem Neonatal de Santa Catarina entre julho de 2007 e junho de 2009. SUJEITOS E M\u00c9TODOS: Estudo prospectivo com 45 pacientes com HCP confirmado. Para o diagn\u00f3stico etiol\u00f3gico, eram realizados na primeira consulta: anamnese, exames f\u00edsico e complementares (TSH, tiroxina livre, tireoglobulina, idade \u00f3ssea, ultrassonografia de tireoide). RESULTADOS: Estabeleceu-se o diagn\u00f3stico etiol\u00f3gico na primeira consulta em 53,33%. Disgenesia representou 51,11%, sendo 20% hipoplasia, 13,3% atireose e 17,7% ectopia; e 2,2% foram diagnosticados com disormoniog\u00eanese. H\u00e9rnia umbilical foi o sinal mais prevalente (48,89%) e 20% n\u00e3o apresentaram manifesta\u00e7\u00e3o cl\u00ednica. Aqueles com disgenesia apresentaram diferen\u00e7a significativa (p &lt; 0,05) pela via de parto ces\u00e1ria, idade \u00f3ssea atrasada e TSH s\u00e9rico muito elevado. CONCLUS\u00d5ES: A abordagem diagn\u00f3stica realizada no primeiro atendimento determina a etiologia do HCP em 53,3% dos casos. A metade dos pacientes apresenta disgenesia tireoidiana. Arq Bras Endocrinol Metab. 2012;56(9):627-32<\/jats:p>","DOI":"10.1590\/s0004-27302012000900005","type":"journal-article","created":{"date-parts":[[2013,1,16]],"date-time":"2013-01-16T03:25:42Z","timestamp":1358306742000},"page":"627-632","source":"Crossref","is-referenced-by-count":3,"title":["Programa de Triagem Neonatal para hipotireoidismo cong\u00eanito de Santa Catarina, Brasil: avalia\u00e7\u00e3o etiol\u00f3gica no primeiro atendimento"],"prefix":"10.1590","volume":"56","author":[{"given":"Marilza Leal","family":"Nascimento","sequence":"first","affiliation":[{"name":"Universidade Federal de Santa Catarina,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda Hostim","family":"Rabello","sequence":"additional","affiliation":[{"name":"Universidade Federal de Santa Catarina,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanao","family":"Ohira","sequence":"additional","affiliation":[{"name":"Universidade Federal de Santa 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