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Hipotireoidismo congênito diagnosticado no sexto dia de vida: um relato de caso

Authors :
Douglas Rafael Ertel
Aldo Roberto Ferrini Filho
Ludmila de Oliveira Jaime Sales
Dayana Carla de Oliveira
Carlos Alberto Moreno Zaconeta
Source :
Residência Pediátrica, Vol 13, Iss 4 (2023)
Publication Year :
2023
Publisher :
Sociedade Brasileira de Pediatria, 2023.

Abstract

INTRODUCTION: Congenital hypothyroidism results from insufficient secretion of thyroid hormones, which are related to the maturation of the central nervous system, being the main cause of preventable intellectual disability in childhood. The diagnosis can be suspected from the neonatal screening test, revealing its importance, since most cases are asymptomatic or oligosymptomatic at birth with nonspecific manifestations, as well as the classic manifestations become evident only later, causing neurological damage. OBJECTIVE: describe a clinical case of a patient diagnosed with congenital hypothyroidism on the sixth day of life, screened through the neonatal screening test, with subsequent laboratory confirmation, highlighting points of diagnosis, treatment and clinical follow-up, avoiding the progression of late diagnosis. CASE REPORT: male patient, born through normal delivery without complications, who developed asymptomatic hypoglycemia at the first hours of life, treatment resistant. The patient presented alterations compatible with congenital hypothyroidism in the neonatal screening test, with subsequent confirmation through laboratory tests. Thyroglobulin replacement was started on the seventh day of life, with progressive improvement in hypoglycemia and favorable clinical evolution throughout the first months of life. CONCLUSION: Congenital hypothyroidism is the main cause of preventable intellectual disability in childhood, it must be diagnosed as early as possible, demonstrating the importance of neonatal screening tools. After the institution of appropriate treatment and clinical follow-up, the evolution is favorable, avoiding the drastic progression of late diagnosis.

Details

Language :
English, Portuguese
ISSN :
22366814
Volume :
13
Issue :
4
Database :
Directory of Open Access Journals
Journal :
Residência Pediátrica
Publication Type :
Academic Journal
Accession number :
edsdoj.549aa89c5f4f4b3ab36c03aee50d533b
Document Type :
article
Full Text :
https://doi.org/10.25060/residpediatr-2023.v13n4-725