Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations

Background Being critical for brain development and neurocognitive function thyroid hormones may have an effect on behaviour and brain structure. Our exploratory study aimed to delineate the influence of mutations in the thyroid hormone receptor (TR) ss gene on brain structure. Methods High-resoluti...

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Published inThyroid research Vol. 16; no. 1; pp. 34 - 10
Main Authors Rogge, Berenike, Heldmann, Marcus, Chatterjee, Krishna, Moran, Carla, Göttlich, Martin, Uter, Jan, Wagner-Altendorf, Tobias A., Steinhardt, Julia, Brabant, Georg, Münte, Thomas F., Cirkel, Anna
Format Journal Article
LanguageEnglish
Published London BioMed Central Ltd 06.11.2023
BioMed Central
BMC
Subjects
Attention-deficit hyperactivity disorder
Brain
Diffusion tensor imaging
Genetic aspects
Resistance to thyroid hormone
Thyroid gland
Thyroid hormone receptor beta
Thyroid hormones
voxel based morphometry
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Summary:Background Being critical for brain development and neurocognitive function thyroid hormones may have an effect on behaviour and brain structure. Our exploratory study aimed to delineate the influence of mutations in the thyroid hormone receptor (TR) ss gene on brain structure. Methods High-resolution 3D T1-weighted images were acquired in 21 patients with a resistance to thyroid hormone ss (RTHss) in comparison to 21 healthy matched-controls. Changes in grey and white matter, as well as cortical thickness were evaluated using voxel-based morphometry (VBM) and diffusion tensor imaging (DTI). Results RTHss patients showed elevated circulating fT4 & fT3 with normal TSH concentrations, whereas controls showed normal thyroid hormone levels. RTHss patients revealed significantly higher scores in a self-rating questionnaire for attention deficit hyperactivity disorder (ADHD). Imaging revealed alterations of the corticospinal tract, increased cortical thickness in bilateral superior parietal cortex and decreased grey matter volume in bilateral inferior temporal cortex and thalamus. Conclusion RTHb patients exhibited structural changes in multiple brain areas. Whether these structural changes are causally linked to the abnormal behavioral profile of RTHss which is similar to ADHD, remains to be determined. Keywords: Resistance to thyroid hormone, voxel based morphometry, Diffusion tensor imaging, Thyroid hormone receptor beta
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ISSN:1756-6614
1756-6614
DOI:10.1186/s13044-023-00176-2