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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Comparison of thyroid function test abnormalities in syndromes of impaired sensitivity to thyroid hormone

Comparison of thyroid function test abnormalities in syndromes of impaired sensitivity to thyroid hormone
Syndrome Gene FT4 FT3 rT3 TSH Other manifestations
THCMTD

MCT8

(SLC16A2)
↑ ↑ N, sl ↑ Severe psychomotor impairment. Virtually all affected individuals are male.
THMD

SBP2

(SECISBP2)
↑ ↑ ↑ ↑ N, sl ↑ Growth delay.
Thyroid hormone action defects
RTH-beta*

TR-beta

(THRB)
↑ ↑ ↑ N ↑ ↑ N, sl ↑ ADD, tachycardia, goiter.
NonTR-RTH* Unknown
RTH-alpha

TR-alpha

(THRA)
N, sl ↑ N Delayed skeletal development, gastrointestinal dysmotility.
TSH: thyroid-stimulating hormone; THCMTD: thyroid hormone cell membrane transport defect; THMD: thyroid hormone metabolism defect; RTH-beta: TR-beta gene defects; TR-beta: thyroid hormone receptor beta; ADD: attention deficit disorder; RTH-alpha: TR-alpha gene defects; TR-alpha: thyroid hormone receptor alpha; RTH: resistance to thyroid hormone; TR: thyroid hormone receptor; sl: slight; N: normal; ↑: increased; ↓: decreased.
* The term "resistance to thyroid hormone" (RTH) traditionally described a clinical and biochemical phenotype. Now, this phenotype is divided into the mechanistic categories of RTH-beta and non-thyroid hormone receptor RTH (nonTR-RTH), which are distinguished by the presence or absence of a mutation in the TR-beta gene.
¶ The mechanism for nonTR-RTH is unknown but probably involves abnormal cofactors or substances that interfere with the action of thyroid hormone on its receptor.
Reference (published simultaneously in these journals):
  1. Refetoff S, Bassett JHD, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid 2014; 24:407.
  2. Refetoff S, Bassett JHD, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab 2014; 99:768.
  3. Refetoff S, Bassett JHD, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J 2014; 3:7.
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