Article
The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism - 1 Sept 1999
Safer J D, O'Connor M G, Colan S D, Srinivasan S, Tollin S R, Wondisford F E
Abstract excerpt
Resistance to thyroid hormone (RTH) action is due to mutations in the beta-isoform of the thyroid hormone receptor (TR-beta). RTH patients display inappropriate central secretion of TRH from the hypothalamus and of TSH from the anterior pituitary despite elevated levels of thyroid hormone (T4 and T3). RTH mutations cluster in three hot spots in the C-terminal portion of the TR-beta. Most individuals with TR-beta...
Topics
- Body Weight
- Female
- Heart
- Humans
- Hypothalamus
- Liver
- Mental Processes
- Middle Aged
- Mutation
- Pedigree
- Pituitary Gland, Anterior
- Prolactin
- Receptors, Thyroid Hormone
- Thyroid Hormone Resistance Syndrome