Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.

doi:10.1089/thy.2020.0696

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Article

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.

Thyroid : official journal of the American Thyroid Association - 1 Sept 2021

Iwayama Hideyuki, Kakita Hiroki, Iwasa Masumi, Adachi Shinsuke, Takano Kyoko, Kikuchi Masahiro, Fujisawa Yasuko, Osaka Hitoshi, Yamada Yasumasa, Okumura Akihisa, Hirani Khemraj, Weiss Roy E, Refetoff Samuel

Abstract excerpt

Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X-chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transport across the cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as the inability of standard biomarkers of neonatal screening to provide early detection. In this study, we...

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PMID: 34049438
DOI: 10.1089/thy.2020.0696
PMCID: PMC8558056

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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