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Resistance to Thyroid Hormone: Laboratory Support of Diagnosis and Management

Resistance to Thyroid Hormone: Laboratory Support of Diagnosis and Management

Test Guide

Resistance to Thyroid Hormone

Laboratory Support of Diagnosis and Management

Resistance to thyroid hormone (RTH) is characterized by reduced end-organ responsiveness of thyroid hormone relative to circulating hormone levels.1 In 85% of cases, it is caused by mutation of the thyroid hormone receptor beta gene (THRB).1 Patients are usually identified with elevated levels of free or total T4 and/or T3 in association with normal or slightly elevated thyroid stimulating hormone (TSH). Clinical and artifactual reasons for hyperthyroxinemia and nonsuppressed TSH must be considered before a diagnosis of RTH can be made (Figure). Tests available for the diagnosis and management of RTH are listed in the Table.

Figure. Differential diagnosis of hyperthyroxinemia and nonsuppressed TSH.

(Adapted from references 1 and 2.)

Table. Laboratory Tests Useful for the Differential Diagnosis and Management of Resistance to Thyroid Hormone
Test Code Test Name
8658(X)

Alpha Subunita

16053(X)

Resistance to Thyroid Hormone (RTH) Mutation Analysisb,c
Detects mutations in the THRB gene.

36574 T3 (Triiodothyronine) Antibody
36598 T3, Free, Tracer Dialysis
859 T3, Total (Triiodothyronine)
36576 T4 (Thyroxine) Antibody
35167 T4, Free, Direct Dialysis
17733 T4, Total (Thyroxine)
870(X) TBG (Thyroxine Binding Globulin)
36577 TSH Antibody
899 TSH
19537 TSH with HAMA Treatment

HAMA, human anti-mouse antibodies.

a This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. It has not been cleared or approved by the US Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.

b This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the test.

c Additional assistance in interpretation of results is available from our Genetic Counselors by calling 1-866-GENE-INFO (1-866-436-3463).

References

  1. Refetoff S. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters, and deiodination. Best Pract Res Clin Endocrinol Metab. 2007;21:277-305.

  2. Gordon DF, Sarapura VD, Samuels MH, et al. Thyroid-stimulating hormone: physiology and secretion. In: Jameson JL, De Groot LJ, et al, eds. Endocrinology. 6th ed. Philadelphia, PA: Saunders; 2010:1311-1329
     

Content reviewed 12/2012

 
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* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.