References
- Lafranchi SH, Snyder DB, Sesser DE, Skeels MR, Singh N, Brent GA, et al. Follow-up of newborns with elevated screening T4 concentrations. J Pediatr 2003;143:296-301 https://doi.org/10.1067/S0022-3476(03)00184-7
- Refetoff S. Resistance to thyroid Hormone. In: Braverman L, Utiger R, editors. Werner and Ingbar's the Thyroid: a fundamental and clinical text. 9th ed. Lippincott Williams & Wilkins 2005:1119-29
- Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone-primum non nocere. J Clin Endocrinol Metab 1999;84:401-4 https://doi.org/10.1210/jc.84.2.401
- Cheng SY. Multiple mechanisms for regulation of the transcriptional activity of thyroid hormone receptors. Rev Endocr Metab Disord 2000;1:9-18 https://doi.org/10.1023/A:1010052101214
- Yen PM. Physiological and molecular basis of thyroid hormone action. Physiol Rev 2001;81:1097-142 https://doi.org/10.1152/physrev.2001.81.3.1097
- Koenig RJ. Thyroid hormone receptor coactivators and corepressors. Thyroid 1998;8:703-13 https://doi.org/10.1089/thy.1998.8.703
- Usala SJ, Bale AE, Gesundheit N, Weinberger C, Lash RW, Wondisford FE, et al. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human C-erbA beta gene. Mol Endocrinol 1988;2:1217-20 https://doi.org/10.1210/mend-2-12-1217
- Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, et al. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci USA 1989;86:8977-81 https://doi.org/10.1073/pnas.86.22.8977
- Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, et al. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest 1990;85:93-100 https://doi.org/10.1172/JCI114438
- Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest 1994;94:506-15 https://doi.org/10.1172/JCI117362
- Yen PM, Chin WW. Molecular mechanisms of dominant negative activity by nuclear hormone receptors. Mol Endocrinol 1994;8:1450-4 https://doi.org/10.1210/me.8.11.1450
- Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S. Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab 1993;76:257-9 https://doi.org/10.1210/jc.76.1.257
- Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunca H, et al. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. J Clin Endocrinol Metab 1996;81:4196-203 https://doi.org/10.1210/jc.81.12.4196
- Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho GA, Macchia PE, et al. Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab 2000;85:3609-17 https://doi.org/10.1210/jc.85.10.3609
- Tsukaguchi H, Yoshimasa Y, Fujimoto K, Ishii H, Yamamoto T, Yoshimasa T, et al. Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone: two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance. J Clin Endocrinol Metab 1995;80:3613-6 https://doi.org/10.1210/jc.80.12.3613
- Dundar B, Bober E, Buyukgebiz A. Successful therapy with L-T4 in a 5 year-old boy with generalized thyroid hormone resistance. J Pediatr Endocrinol Metab 2003;16:1051-6
- Beck-Peccoz P, Piscitelli G, Cattaneo MG, Faglia G. Successful treatment of hyperthyroidism due to nonneoplastic pituitary TSH hypersecretion with 3,5,3'-triiodothyroacetic acid (TRIAC). J Endocrinol Invest 1983;6:217-23 https://doi.org/10.1007/BF03350611