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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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| Udgivet i: | Intern Med |
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| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Japanese Society of Internal Medicine
2019
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| Fag: | |
| Online adgang: | 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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