Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement

Thyroglobulin (TG) gene mutations cause thyroid dyshormonogenesis, which is typically associated with a congenital goiter. We herein report the case of a 64-year-old man with congenital primary hypothyroidism who had a normal-sized thyroid gland on levothyroxine replacement. He had short stature (−3...

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Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Mizokami, Tetsuya, Fukata, Shuji, Kogai, Takahiko, Hishinuma, Akira, Hamada, Katsuhiko, Maruta, Tetsushi, Higashi, Kiichiro, Tajiri, Junichi
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6794167/
https://ncbi.nlm.nih.gov/pubmed/31178475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.1163-18
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