Refetoff syndrome is an autosomal recessive disorder of thyroid hormone resistance caused by mutations of the throid hormon receptor gene (THRB). The clinical picture includes hight levels of thyroid hormone and also hight TSH. The hight TSH levels result in Goiter and require inapproprately hight doses of thyroid homone to become reduced.
1. |
Refetoff S et al. (1972) Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. |
3. |
Charles MA et al. (1975) Nuclear receptors for thyroid hormone: evidence for nonrandom distribution within chromatin. |
4. |
None (1985) Thyroid hormone action at the nuclear level. |
5. |
None (1973) Congenital euthyroid goitre and partial peripheral resistance to thyroid hormones. |
6. |
Bode HH et al. (1973) Partial target organ resistance to thyroid hormone. |
7. |
None (1982) Syndromes of thyroid hormone resistance. |
8. |
Ohzeki T et al. (1984) Thyroid hormone unresponsiveness in two siblings with intrauterine growth retardation exophthalmos. |
9. |
Refetoff S et al. (1980) Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone. |
10. |
OMIM.ORG article Omim 274300 |
11. |
Wikipedia article Wikipedia EN (Thyroid_hormone_resistance) |