Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio

Thyroglobulin gene abnormalities cause thyroid dyshormonogenesis. A 6-yr-old boy of consanguineous parents presented with a large goiter and mild hypothyroidism (thyroid-stimulating hormone [TSH] 7.2 μIU/mL, free T3 [FT3] 3.4 pg/mL, free T4 [FT4] 0.6 ng/dL). Despite levothyroxine (LT4) administratio...

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Detalles Bibliográficos
Autores principales: Matsuyama, Misayo, Sawada, Hirotake, Inoue, Shinobu, Hishinuma, Akira, Sekiya, Ryo, Sato, Yuichiro, Moritake, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297170/
https://www.ncbi.nlm.nih.gov/pubmed/35928386
http://dx.doi.org/10.1297/cpe.2022-0006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297170/
https://www.ncbi.nlm.nih.gov/pubmed/35928386
http://dx.doi.org/10.1297/cpe.2022-0006

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