Journal
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 21, Issue 2, Pages 277-305Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.beem.2007.03.005
Keywords
deiodinases; MCT8; metabolism; receptor; resistance; SECISBP2/SBP2; selenoproteins; thyroid hormone; transmembrane transport
Categories
Funding
- NCRR NIH HHS [RR00055] Funding Source: Medline
- NIDDK NIH HHS [DK17050] Funding Source: Medline
Ask authors/readers for more resources
At least six major steps are required for secreted thyroid hormone (TH) to exert its action on target tissues. Mutations interfering with three of these steps have been so far identified. The first recognized defect, which causes resistance to TH, involves the TH receptor beta gene and has been given the acronym RTH. Occurring in similar to 1 per 40,000 newborns, more than 1000 affected subjects, from 339 families, have been identified. The gene defect remains unknown in 15% of subjects with RTH. Two novel syndromes causing reduced sensitivity to TH were recently identified. One, producing severe psychomotor defects in > 100 males from 26 families, is caused by mutations in the cell-membrane transporter of TH, MCT8; the second, affecting the intracellular metabolism of TH in four individuals from two families, is caused by mutations in the SEC1SBP2 gene, which is required for the synthesis of selenoproteins, including TH deiodinases.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available