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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Inheritable forms of impaired sensitivity to thyroid hormone[1-3]

Inheritable forms of impaired sensitivity to thyroid hormone[1-3]
Commonly used name Synonyms Gene involved and inheritance (MIM) Phenotype
Consistent
(pathognomonic)		 Common features
Thyroid hormone cell membrane transport defects (THCMTD)
MCT8 defect Allan-Herndon-Dudley syndrome
  • MCT8 (SLC16A2) gene
    (MIM #300095)
  • X chromosome-linked
 High T3, low rT3 and T4, normal or slightly elevated TSH; low BMI; hypotonia, spastic quadriplegia; not walking or, rarely, ataxic gait; dysarthria or no speech; intellectual disability Hypermetabolism, paroxysmal dyskinesia, reduced muscle mass, seizures, poor head control, difficulty sitting independently
Idiopathic and other THCMTDs  
  • To be determined
 Unknown
Thyroid hormone metabolism defects (THMD)
SBP2 defect   High T4 and rT3, low T3, normal or slightly elevated TSH; growth retardation Azoospermia, immunodeficiency, photosensitivity, delayed bone maturation, myopathy, hearing impairment, delayed developmental milestones
Idiopathic and other THMDs   High rT3:T3 ratio Tendency for higher cholesterol, based on 2 families[4] 
Thyroid hormone action defects (THAD) – Nuclear receptor and other
Resistance to thyroid hormone (RTH)* Thyroid hormone unresponsiveness, generalized RTH, RTH-beta; Refetoff syndrome
  • THRB gene
    (MIM #190160)
  • Dominant negative (rarely recessive)
 High serum FT4 and nonsuppressed TSH High serum FT3 and rT3, high thyroglobulin, goiter, ADHD, tachycardia
nonTR-RTH  
  • Unknown
 Same as above Same as above
RTH-alpha 1Δ Congenital nongoitrous hypothyroidism 6 Low serum T4:T3 and T3:T4 ratios; cognitive impairment, short lower limbs, delayed closure of skull sutures, bone and dental development, skeletal dysplasia; constipation; anemia Macrocephaly, seizures, placid behavior
Hypersensitivity to thyroid hormone  
  • Unknown
 Low FT4 and FT3 with normal TSH and no serum transport defects Normal thyroid gland
Idiopathic and other THADs  
  • To be determined
 Unknown  
MIM: Mendelian Inheritance in Man database; THCMTD: thyroid hormone cell membrane transport defect; MCT8: monocarboxylate transporter 8; T3: triiodothyronine; T4: thyroxine; THMD: thyroid hormone metabolism; TSH: thyroid-stimulating hormone; SBP2: selenocysteine insertion sequence binding protein 2; D1O1: deiodinase 1; THAD: thyroid hormone action defects; RTH: resistance to thyroid hormone; RTH-beta: resistance to thyroid hormone beta; ADHD: attention deficit hyperactivity disorder; RTH-alpha: resistance to thyroid hormone alpha.
* Proposed future terminology: RTH-beta.
¶ RTH without mutations in the THRB gene.
Δ Mutations in TR-alpha 2 do not produce a phenotype, because this receptor does not bind thyroid hormone.
References:
  1. Refetoff S, Bassett JHD, Beck-Peccoz P, 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, Beck-Peccoz P, 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, Beck-Peccoz P, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J 2014; 3:7.
  4. França MM, German A, Fernandes GW, et al.Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid 2021; 31:202.
Republished with permission of The Endocrine Society. Copyright © 2014. Permission conveyed through Copyright Clearance Center, Inc.
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