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 language | English (US) |
|---|---|
| Title of host publication | Genetic Diagnosis of Endocrine Disorders |
| Publisher | Elsevier Inc. |
| ISBN (Print) | 9780123744302 |
| DOIs | |
| State | Published - 2010 |
| Externally published | Yes |
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Keywords
- Deiodinase
- MCT8
- SBP2
- Thyroid hormone receptor beta
- Thyroid hormone resistance
ASJC Scopus subject areas
- Dentistry(all)
- Medicine(all)
Cite this
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 proceeding › Chapter
}
TY - CHAP
T1 - Syndromes of Reduced Sensitivity to Thyroid Hormone
AU - Weiss, Roy E
AU - Dumitrescu, Alexandra M.
AU - Refetoff, Samuel
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
KW - Deiodinase
KW - MCT8
KW - SBP2
KW - Thyroid hormone receptor beta
KW - Thyroid hormone resistance
UR - http://www.scopus.com/inward/record.url?scp=84882471999&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84882471999&partnerID=8YFLogxK
U2 - 10.1016/B978-0-12-374430-2.00010-9
DO - 10.1016/B978-0-12-374430-2.00010-9
M3 - Chapter
AN - SCOPUS:84882471999
SN - 9780123744302
BT - Genetic Diagnosis of Endocrine Disorders
PB - Elsevier Inc.
ER -