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Novel Insights from Clinical Practice

Unexpected Peripheral Markers of Thyroid Function in a Patient with a Novel Mutation of the MCT8 Thyroid Hormone Transporter Gene

Herzovich V. · Vaiani E. · Marino R. · Dratler G. · Lazzati J.M. · Tilitzky S. · Ramirez P. · Iorcansky S. · Rivarola M.A. · Belgorosky A.

Author affiliations

Endocrinology Service, Hospital de Pediatria Garrahan, Buenos Aires, Argentina

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Horm Res 2007;67:1–6

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Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Practice

Received: March 07, 2006
Accepted: May 15, 2006
Published online: September 15, 2006
Issue release date: February 2007

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: https://www.karger.com/HRP

Abstract

The specific thyroid hormone transporter, MCT8, located on the X chromosome, has led to the identification a novel syndrome. The objective is to relate phenotype with several tissue-specific thyroid functions. A 1-year-old boy, who had severe psychological damage and low serum T4, had received l-T4 for 3 months. At admission, body length was normal but weight was low. Off therapy, serum TSH was mildly elevated, serum T4 and free T4 were low, and serum T3 and free T3 were high. Direct sequencing of the MCT8 gene revealed a single nucleotide change that resulted in a novel nonsense mutation at codon 261 (Q261X) in exon 3. Since serum T3 was high, peripheral markers of hyperthyroidism were looked for. Bone age was advanced, despite the presence of malnutrition and low T4. Serum SHBG, a marker of thyroid hormone action in liver, was markedly elevated. Markers of skeletal muscle catabolism, ammonemia and lactic acid, were found to be elevated. The phenotype of MCT 8 mutation might be explained by differences in the entry of thyroid hormones into different cells. In the presence of an inactive MCT8 transporter, the high blood T3 levels might not be enough to prevent brain damage early in life, while they seem to be able to induce a postnatal state of peripheral hyperthyroidism in other tissues, such as liver, bone and skeletal muscle.

© 2007 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Practice

Received: March 07, 2006
Accepted: May 15, 2006
Published online: September 15, 2006
Issue release date: February 2007

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: https://www.karger.com/HRP


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