The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
The Syndromes of Resistance to Thyroid Hormone*
Abstract
THE syndromes of resistance to thyroid hormone are characterized by reduced clinical and biochemical manifestations of thyroid hormone action relative to the circulating hormone levels. In practice, most patients are identified by the persistent elevation of serum levels of T4 and T3 with “inappropriately” nonsuppressed TSH, in the absence of intercurrent acute illness, drugs, or alterations of thyroid hormone binding to serum proteins. More importantly, administration of supraphysiological doses of thyroid hormone fail to produce the expected suppressive effect on the secretion of pituitary TSH and/or to induce the expected metabolic responses in the peripheral tissues. Since the publication of the index cases in 1967 (1), 347 subjects have been reported who exhibit the characteristics of the syndrome (Refs. 1–129 and our personal communications and observations). In this review, we summarize all cases known to us, present their common features as well as unusual manifestations, and attempt to analyze and relate both clinical and laboratory findings. Special emphasis is given to recent advances in diagnostic procedures and in genetic studies which, in addition to identifying the etiology of the resistance, have contributed to the understanding of the molecular mechanisms of thyroid hormone action. The ultimate goal is to provide more accurate means of establishing the diagnosis, earlier recognition of the disorder, and more effective approaches to therapy.
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Cites
The Steroid and Thyroid Hormone Receptor Superfamily
Evans, R. M. (1988) · Science · doi:10.1126/science.3283939 · Cited by 7,439
Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man
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Thyroid Hormone Receptors: Multiple Forms, Multiple Possibilities*
LAZAR, M. A. (1993) · Endocrine Reviews · doi:10.1210/edrv-14-2-184 · Cited by 1,071
REFETOFF, S., DEWIND, L. T., & DEGROOT, L. J. (1967) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-27-2-279 · Cited by 568
Self-citationPoint mutations in the Human Vitamin D Receptor Gene Associated with Hypocalcemic Rickets
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Self-citationThe Variable Clinical Phenotype in Thyroid Hormone Resistance Syndrome
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Self-citation
Cited by
Physiological and Molecular Basis of Thyroid Hormone Action
Yen, P. M. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.3.1097 · Cited by 2,011
A thyroid hormone receptor that is required for the development of green cone photoreceptors
Ng, L., Hurley, J. B., Dierks, B., Srinivas, M., Saltó, C., Vennström, B., Reh, T. A., & Forrest, D. (2001) · Nature Genetics · doi:10.1038/83829 · Cited by 561
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance
Bassett, J. H. D., & Williams, G. R. (2016) · Endocrine Reviews · doi:10.1210/er.2015-1106 · Cited by 540
Abnormal heart rate and body temperature in mice lacking thyroid hormone receptor alpha 1
Wikstrom, L. (1998) · The EMBO Journal · doi:10.1093/emboj/17.2.455 · Cited by 513
Durand, B., Saunders, M., Gaudon, C., Roy, B., Losson, R., & Chambon, P. (1994) · The EMBO Journal · doi:10.1002/j.1460-2075.1994.tb06872.x · Cited by 354
Metadata
- Authors
- REFETOFF, S., WEISS, R. E., & USALA, S. J.
- Venue
- Endocrine Reviews
- Publisher
- The Endocrine Society
- Published
- 1993-06
- Volume
- 14
- Issue
- 3
- Pages
- 348-399
- ISSN
- 0163-769X (ISSN-L)
- 1945-7189
- OpenAlex
- W2056724579
- Cited by
- 873
- References
- 31
- FWCI
- 31.04
- Type
- journal article
- Language
- en
- Open access
- closed
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- REFETOFF, S., WEISS, R. E., & USALA, S. J. (1993). The Syndromes of Resistance to Thyroid Hormone*. Endocrine Reviews. https://doi.org/10.1210/edrv-14-3-348
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