Programa de Triagem Neonatal para hipotireoidismo congênito de Santa Catarina, Brasil: avaliação etiológica no primeiro atendimento / Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit
Arq. bras. endocrinol. metab
;
56(9): 627-632, Dec. 2012. ilus, tab
Article
in Portuguese
| LILACS
| ID: lil-660277
RESUMO
OBJETIVO:
Avaliar a etiologia, no primeiro atendimento, dos casos de hipotireoidismo congênito primário (HCP) identificados pelo Programa de Triagem Neonatal de Santa Catarina entre julho de 2007 e junho de 2009. SUJEITOS EMÉTODOS:
Estudo prospectivo com 45 pacientes com HCP confirmado. Para o diagnóstico etiológico, eram realizados na primeira consulta anamnese, exames físico e complementares (TSH, tiroxina livre, tireoglobulina, idade óssea, ultrassonografia de tireoide).RESULTADOS:
Estabeleceu-se o diagnóstico etiológico 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 disormoniogênese. Hérnia umbilical foi o sinal mais prevalente (48,89%) e 20% não apresentaram manifestação clínica. Aqueles com disgenesia apresentaram diferença significativa (p < 0,05) pela via de parto cesária, idade óssea atrasada e TSH sérico muito elevado.CONCLUSÕES:
A abordagem diagnóstica 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.ABSTRACT
OBJECTIVE:
To evaluate the etiology of primary congenital hypothyroidism (PCH) identified in the Newborn Screening Program from the state of Santa Catarina, Brazil, from July 2007 to June 2009 in the first visit. SUBJECTS ANDMETHODS:
A prospective study was performed in 45 patients with PCH. For the etiological diagnosis, history, physical examination, and additional tests (TSH, free thyroxine, thyroglobulin, bone age assessment, thyroid ultrasound) were carried out in the first visit.RESULTS:
The etiology was established in the first visit in 53.3% of cases. Thyroid dysgenesis represented 51.11% of the cases, from which 20% showed hypoplastic thyroid, 13.3% showed athyreosis, and 17.7% showed ectopic glands; 2.2% were diagnosed with dyshormonogenesis. Umbilical hernia was the most prevalent sign (48.89%) and 20% had no clinical manifestations. Patients with dysgenesis showed significant differences (p < 0.05) in terms of cesarean section delivery, delayed bone age, and very high serum TSH.CONCLUSIONS:
The diagnostic approach used at first visit for PCH patients may determine the etiology in 53.3% of cases. Half of patients had thyroid dysgenesis. Arq Bras Endocrinol Metab. 2012;56(9)627-32.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Thyrotropin
/
Neonatal Screening
/
Congenital Hypothyroidism
Type of study:
Diagnostic study
/
Etiology study
/
Evaluation studies
/
Observational study
/
Prognostic study
/
Screening study
Limits:
Female
/
Humans
/
Male
/
Infant, Newborn
Country/Region as subject:
South America
/
Brazil
Language:
Portuguese
Journal:
Arq. bras. endocrinol. metab
Journal subject:
Endocrinology
/
Metabolism
Year:
2012
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal de Santa Catarina/BR
Similar
MEDLINE
...
LILACS
LIS