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Article

Intranasal delivery of Thyroid hormones in MCT8 deficiency.

PloS one - 1 Jan 2020

Grijota-Martínez Carmen, Bárez-López Soledad, Ausó Eva, Refetoff Samuel, Frey William H, Guadaño-Ferraz Ana

Abstract excerpt

Loss of function mutations in the gene encoding the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) lead to severe neurodevelopmental defects in humans associated with a specific thyroid hormone phenotype manifesting high serum 3,5,3'-triiodothyronine (T3) and low thyroxine (T4) levels. Patients present a paradoxical state of peripheral hyperthyroidism and brain hypothyroidism, this last one most...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32687511
DOI: 10.1371/journal.pone.0236113
PMCID: PMC7371167

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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