ArticleJCEM case reports2026
Thyroxine binding globulin deficiency due to a novel
Article in JCEM case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Primary hypothyroidism is managed with oral levothyroxine (LT4) using a daily dose of 1.5 to 2 µg per kg. Elevated thyroid-stimulating hormone (TSH) despite a high dose of LT4 is a common problem and could be due to multiple etiologies, including poor drug compliance, thyroxine (T4) malabsorption, celiac disease, and consumptive hypothyroidism. A 12-year-old girl was referred with persistently elevated TSH despite using daily 100 µg LT4. Detailed evaluation, including the LT4 absorption test, was normal, and she achieved euthyroidism with a daily LT4 dose of 5.5 µg per kg. Her T4 levels were consistently normal despite a high LT4 dose, and evaluation revealed an undetectable thyroxine-binding globulin (TBG) level. Whole-exome sequencing for the TBG gene revealed a heterozygous missense variant in the
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