SAMUEL REFETOFF,
ROY E. WEISS and
STEPHEN J. USALA
Department of Medicine, The University of Chicago Chicago, Illinois 60637
Department of Pediatrics, The University of Chicago Chicago, Illinois 60637
Department of the J.P. Kennedy, Jr. Mental Retardation Research Center, The University of Chicago Chicago, Illinois 60637
Department of Medicine, East Carolina University, School of Medicine Greenville, North Carolina 27858
Correspondence: Address requests for reprints to: Samuel Refetoff, M.D., Thyroid Study Unit-MC3090, The University of Chicago, 5841 South Maryland Avenue, Chicago, Illinois 60637.
Abstract
I. Introduction: THE syndromes of resistance to thyroid hormone are characterizedby reduced clinical and biochemical manifestations of thyroidhormone action relative to the circulating hormone levels. Inpractice, most patients are identified by the persistent elevationof serum levels of T4 and T3 with "inappropriately" nonsuppressedTSH, in the absence of intercurrent acute illness, drugs, oralterations of thyroid hormone binding to serum proteins. Moreimportantly, administration of supraphysiological doses of thyroidhormone fail to produce the expected suppressive effect on thesecretion of pituitary TSH and/or to induce the expected metabolicresponses in the peripheral tissues. Since the publication ofthe index cases in 1967 (1), 347 subjects have been reportedwho exhibit the characteristics of the syndrome (Refs. 1–129and our personal communications and observations). In this review,we summarize all cases known to us, present their common featuresas well as unusual manifestations, and attempt to analyze andrelate both clinical and laboratory findings. Special emphasisis given to recent advances in diagnostic procedures and ingenetic studies which, in addition to identifying the etiologyof the resistance, have contributed to the understanding ofthe molecular mechanisms of thyroid hormone action. The ultimategoal is to provide more accurate means of establishing the diagnosis,earlier recognition of the disorder, and more effective approachesto therapy.
Footnotes
A glossary of abbreviations appears on page 391.
* Work from the authors' laboratories presented herein and thepreparation of this review were supported by grants from theNational Institutes of Health DK-15070 and DK-42807 and USPHSGrant RR-00055.
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R. N. Cohen, A. Putney, F. E. Wondisford, and A. N. Hollenberg The Nuclear Corepressors Recognize Distinct Nuclear Receptor Complexes
Mol. Endocrinol.,
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[Abstract][Full Text]
M. Anafi, Y.-F. Yang, N. A. Barlev, M. V. Govindan, S. L. Berger, T. R. Butt, and P. G. Walfish GCN5 and ADA Adaptor Proteins Regulate Triiodothyronine/GRIP1 and SRC-1 Coactivator-Dependent Gene Activation by the Human Thyroid Hormone Receptor
Mol. Endocrinol.,
May 1, 2000;
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718 - 732.
[Abstract][Full Text]
C. Pazos-Moura, E. D. Abel, M.-E. Boers, E. Moura, T. G. Hampton, J. Wang, J. P. Morgan, and F. E. Wondisford Cardiac Dysfunction Caused by Myocardium-Specific Expression of a Mutant Thyroid Hormone Receptor
Circ. Res.,
March 31, 2000;
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[Abstract][Full Text][PDF]
New Resistance to Several Steroids in Two Sisters
J. Clin. Endocrinol. Metab.,
December 1, 1999;
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[Abstract][Full Text]
M. Gurnell, O. Rajanayagam, M. Agostini, R. J. D. Clifton-Bligh, T. Wang, P. M. J. Zelissen, F. van der Horst, A. v. d. Wiel, E. Macchia, A. Pinchera, et al. Three Novel Mutations at Serine 314 in the Thyroid Hormone {beta} Receptor Differentially Impair Ligand Binding in the Syndrome of Resistance to Thyroid Hormone
Endocrinology,
December 1, 1999;
140(12):
5901 - 5906.
[Abstract][Full Text]
J. Pohlenz, R. E. Weiss, P. E. Macchia, S. Pannain, I. T. Lau, H. Ho, and S. Refetoff Five New Families with Resistance to Thyroid Hormone not Caused by Mutations in the Thyroid Hormone Receptor {beta} Gene
J. Clin. Endocrinol. Metab.,
November 1, 1999;
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[Abstract][Full Text]
G. Barrera-Hernandez, K. S. Park, A. Dace, Q. Zhan, and S.-y. Cheng Thyroid Hormone-Induced Cell Proliferation in GC Cells Is Mediated by Changes in G1 Cyclin/Cyclin-Dependent Kinase Levels and Activity
Endocrinology,
November 1, 1999;
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5267 - 5274.
[Abstract][Full Text]
J. D. Safer, M. G. O’Connor, S. D. Colan, S. Srinivasan, S. R. Tollin, and F. E. Wondisford The Thyroid Hormone Receptor-{beta} Gene Mutation R383H Is Associated with Isolated Central Resistance to Thyroid Hormone
J. Clin. Endocrinol. Metab.,
September 1, 1999;
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3099 - 3109.
[Abstract][Full Text]
T. Abe, M. Kakyo, T. Tokui, R. Nakagomi, T. Nishio, D. Nakai, H. Nomura, M. Unno, M. Suzuki, T. Naitoh, et al. Identification of a Novel Gene Family Encoding Human Liver-specific Organic Anion Transporter LST-1
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[Abstract][Full Text][PDF]
S. Göthe, Z. Wang, L. Ng, J. M. Kindblom, A. C. Barros, C. Ohlsson, B. Vennström, and D. Forrest Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation
Genes & Dev.,
May 15, 1999;
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1329 - 1341.
[Abstract][Full Text]
P. J. Malloy, J. W. Pike, and D. Feldman The Vitamin D Receptor and the Syndrome of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Endocr. Rev.,
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[Abstract][Full Text]
M. Derwahl, M. Broecker, and Z. Kraiem Thyrotropin May Not Be the Dominant Growth Factor in Benign and Malignant Thyroid Tumors
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March 1, 1999;
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[Full Text]
R. E. Weiss and S. Refetoff Editorial: Treatment of Resistance to Thyroid Hormone--Primum Non Nocere
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February 1, 1999;
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[Full Text]
F. Brucker-Davis, E. H. Oldfield, M. C. Skarulis, J. L. Doppman, and B. D. Weintraub Thyrotropin-Secreting Pituitary Tumors: Diagnostic Criteria, Thyroid Hormone Sensitivity, and Treatment Outcome in 25 Patients Followed at the National Institutes of Health
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February 1, 1999;
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[Abstract][Full Text]
M. J. Reginato, S. T. Bailey, S. L. Krakow, C. Minami, S. Ishii, H. Tanaka, and M. A. Lazar A Potent Antidiabetic Thiazolidinedione with Unique Peroxisome Proliferator-activated Receptor gamma -activating Properties
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[Abstract][Full Text][PDF]
T. Tagami, W.-X. Gu, P. T. Peairs, B. L. West, and J. L. Jameson A Novel Natural Mutation in the Thyroid Hormone Receptor Defines a Dual Functional Domain That Exchanges Nuclear Receptor Corepressors and Coactivators
Mol. Endocrinol.,
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[Abstract][Full Text]
J. D. Safer, R. N. Cohen, A. N. Hollenberg, and F. E. Wondisford Defective Release of Corepressor by Hinge Mutants of the Thyroid Hormone Receptor Found in Patients with Resistance to Thyroid Hormone
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[Abstract][Full Text][PDF]
Y. Liu, A. Takeshita, S. Misiti, W. W. Chin, and P. M. Yen Lack of Coactivator Interaction Can Be a Mechanism for Dominant Negative Activity by Mutant Thyroid Hormone Receptors
Endocrinology,
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[Abstract][Full Text][PDF]
M. Raval-Pandya, L. P. Freedman, H. Li, and S. Christakos Thyroid Hormone Receptor Does Not Heterodimerize with the Vitamin D Receptor but Represses Vitamin D Receptor-Mediated Transactivation
Mol. Endocrinol.,
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[Abstract][Full Text]
M. P. McDonald, R. Wong, G. Goldstein, B. Weintraub, S.-y. Cheng, and J. N. Crawley Hyperactivity and Learning Deficits in Transgenic Mice Bearing a Human Mutant Thyroid Hormone beta 1 Receptor Gene
Learn. Mem.,
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[Abstract][Full Text]
T. Abe, M. Kakyo, H. Sakagami, T. Tokui, T. Nishio, M. Tanemoto, H. Nomura, S. C. Hebert, S. Matsuno, H. Kondo, et al. Molecular Characterization and Tissue Distribution of a New Organic Anion Transporter Subtype (oatp3) That Transports Thyroid Hormones and Taurocholate and Comparison with oatp2
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[Abstract][Full Text][PDF]
L. Persani, S. Borgato, R. Romoli, C. Asteria, A. Pizzocaro, and P. Beck-Peccoz Changes in the Degree of Sialylation of Carbohydrate Chains Modify the Biological Properties of Circulating Thyrotropin Isoforms in Various Physiological and Pathological States
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July 1, 1998;
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[Abstract][Full Text]
R. J. Clifton-Bligh, F. de Zegher, R. L. Wagner, T. N. Collingwood, I. Francois, M. Van Helvoirt, R. J. Fletterick, and V. K. K. Chatterjee A Novel TR{beta} Mutation (R383H) in Resistance to Thyroid Hormone Syndrome Predominantly Impairs Corepressor Release and Negative Transcriptional Regulation
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[Abstract][Full Text]
T. Tagami and J. L. Jameson Nuclear Corepressors Enhance the Dominant Negative Activity of Mutant Receptors That Cause Resistance to Thyroid Hormone
Endocrinology,
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[Abstract][Full Text][PDF]
M Knipper, C Bandtlow, L Gestwa, I Kopschall, K Rohbock, B Wiechers, H. Zenner, and U Zimmermann Thyroid hormone affects Schwann cell and oligodendrocyte gene expression at the glial transition zone of the VIIIth nerve prior to cochlea function
Development,
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[Abstract][PDF]
Y. Liu, A. Takeshita, T. Nagaya, A. Baniahmad, W. W. Chin, and P. M. Yen An Inhibitory Region of the DNA-Binding Domain of Thyroid Hormone Receptor Blocks Hormone-Dependent Transactivation
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[Abstract][Full Text]
P. Hauser, J. M. McMillin, and V. S. Bhatara Resistance To Thyroid Hormone: Implications for Neurodevelopmental Research On the Effects of Thyroid Hormone Disruptors
Toxicology and Industrial Health,
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[Abstract][PDF]
E. S. Sher, Xiao Ming Xu, P. M. Adams, C. M. Craft, and S. A. Stein The Effects of Thyroid Hormone Level and Action in Developing Brain: Are These Targets for the Actions of Polychlorinated Biphenyls and Dioxins?
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121 - 158.
[Abstract][PDF]
