Journal
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 21, Issue 2, Pages 307-321Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.beem.2007.03.009
Keywords
Allan-Herndon-Dudley syndrome; MCT8; T-3; thyroid hormone transporter
Categories
Funding
- NICHD NIH HHS [R01 HD026202-15, R01 HD026202, HD26202] Funding Source: Medline
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Thyroid hormone is essential for the proper development and function of the brain. The active form of thyroid hormone is T-3, which binds to nuclear receptors. Recently, a transporter specific for T-3, MCT8 (monocarboxylate transporter 8) was identified. MCT8 is highly expressed in liver and brain. The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, Allan-Herndon-Dudley syndrome (AHDS). This syndrome is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays. Affected males also present with muscle hypoplasia, generalized muscle weakness, and limited speech. Importantly, these patients have elevated serum levels of free T-3, low to below normal serum levels of free T-4, and levels of thyroid stimulating hormone that are within the normal range. This constellation of measurements of thyroid function enables quick screening for AHDS in males presenting with cognitive impairment, congenital hypotonia, and generalized muscle weakness.
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