Syndromes of Reduced Sensitivity to Thyroid Hormone

Roy E Weiss, Alexandra M. Dumitrescu, Samuel Refetoff

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

This chapter discusses syndromes related to the reduced sensitivity to thyroid hormone which include a group of disorders with abnormalities in the level of serum thyroid stimulating hormone (TSH) and other thyroid hormone (TH) levels. Resistance to thyroid hormone (RTH) is stated to be a syndrome of reduced end-organ responsiveness to TH and is associated with mutations in TH receptors (TRs). An overview of described and putative defects of the syndromes is given and includes thyroid hormone cell transport defect, thyroid hormone metabolism defect and abnormal hormone transfer to the nucleus. The genetic pathophysiology of the syndromes is further discussed and in the case of RTH, mutations in TRβ gene located on chromosome 3 causes the syndrome. In thyroid hormone metabolism defect syndrome, a defect in the gene that codes for selenocysteine insertion sequence-binding protein 2 (SBP2) is involved and is manifested as a global deiodination defect giving rise to low triiodothyronine (T3) and high tetraiodothyronine thyroxine (T4) and reverse T3 (rT3). The treatment options for these syndromes are also mentioned.

Original languageEnglish (US)
Title of host publicationGenetic Diagnosis of Endocrine Disorders
PublisherElsevier Inc.
ISBN (Print)9780123744302
DOIs
StatePublished - 2010
Externally publishedYes

Fingerprint

Thyroid Hormones
Thyroid Hormone Resistance Syndrome
Selenocysteine
Thyroid Hormone Receptors
Mutation
Chromosomes, Human, Pair 3
Insertional Mutagenesis
Triiodothyronine
Thyrotropin
Thyroxine
Genes
Carrier Proteins
Hormones
Serum

Keywords

  • Deiodinase
  • MCT8
  • SBP2
  • Thyroid hormone receptor beta
  • Thyroid hormone resistance

ASJC Scopus subject areas

  • Dentistry(all)
  • Medicine(all)

Cite this

Weiss, R. E., Dumitrescu, A. M., & Refetoff, S. (2010). Syndromes of Reduced Sensitivity to Thyroid Hormone. In Genetic Diagnosis of Endocrine Disorders Elsevier Inc.. https://doi.org/10.1016/B978-0-12-374430-2.00010-9

Syndromes of Reduced Sensitivity to Thyroid Hormone. / Weiss, Roy E; Dumitrescu, Alexandra M.; Refetoff, Samuel.

Genetic Diagnosis of Endocrine Disorders. Elsevier Inc., 2010.

Research output: Chapter in Book/Report/Conference proceedingChapter

Weiss, RE, Dumitrescu, AM & Refetoff, S 2010, Syndromes of Reduced Sensitivity to Thyroid Hormone. in Genetic Diagnosis of Endocrine Disorders. Elsevier Inc. https://doi.org/10.1016/B978-0-12-374430-2.00010-9
Weiss RE, Dumitrescu AM, Refetoff S. Syndromes of Reduced Sensitivity to Thyroid Hormone. In Genetic Diagnosis of Endocrine Disorders. Elsevier Inc. 2010 https://doi.org/10.1016/B978-0-12-374430-2.00010-9
Weiss, Roy E ; Dumitrescu, Alexandra M. ; Refetoff, Samuel. / Syndromes of Reduced Sensitivity to Thyroid Hormone. Genetic Diagnosis of Endocrine Disorders. Elsevier Inc., 2010.
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