Toxic multinodular goiter causes: Difference between revisions

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===Genetic Causes===
===Genetic Causes===
*The development of multi-nodular goiter is the result of multiple genetic base substitution mutations on exon 10 of chromosome 14q31.
*The development of multi-nodular goiter is the result of multiple genetic base substitution mutations on exon 10 of chromosome 14q31.
'''Common mutations'''
{| class="wikitable"
* Methionine replacing an isoleucine (I486M) in the first extracellular loop of TSH-R G-protien<sup>[[Toxic multinodular goiter pathophysiology#cite note-pmid108524622-17|[17]]]</sup>
!Frequency of mutation
* Threonine in position 632 (T632I) sixth transmembrane segment of TSH-R G-protien<sup>[[Toxic multinodular goiter pathophysiology#cite note-pmid108524623-18|[18]]]</sup>
!(TSHr gene codon
 
!base substitution
'''Less common mutations'''
!amino acid change
 
|-
(TSHr gene codon) 486 (base substitution)ATC/ATG (amino acid change) Ile/Met
|'''Common'''
 
|486
(TSHr gene codon)619 (base substitution)GAT/GGT (amino acid change)Asp/Gly
|ATC/ATG
 
|Ile/Met
(TSHr gene codon)623 (base substitution)GCC/GTC (amino acid change)Ala/Val
|-
 
|'''Common'''
(TSHr gene codon)629 (base substitution)TTG/TTT (amino acid change)Leu/Phe
|632
 
|ACC/ATC
(TSHr gene codon)630 (base substitution)ATC/CTC (amino acid change)Ile/Leu
|Thr/Ile
 
|-
(TSHr gene codon)632 (base substitution)ACC/ATC (amino acid change)Thr/Ile
|'''Less common'''
 
|619
(TSHr gene codon)633 (base substitution)GAC/GAG (amino acid change)Asp/Glu
|GAT/GGT
 
|Asp/Gly
(TSHr gene codon)639 (base substitution)CCA/TCA (amino acid change) Pro/Ser
|-
|'''Less common'''
|623
|GCC/GTC
|Ala/Val
|-
|'''Less common'''
|629
|TTG/TTT  
|Leu/Phe
|-
|'''Less common'''
|630
|ATC/CTC  
|Ile/Leu
|-
|'''Less common'''
|633
|GAC/GAG
|Asp/Glu
|-
|'''Less common'''
|639
|CCA/TCA
|Pro/Ser
|}


===Causes by Organ System===
===Causes by Organ System===

Revision as of 20:07, 13 October 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

The progression to Toxic multinodular goiter usually involves the somatic gain-of-function mutations in the TSH receptor gene.

Causes

The causes of toxic multinodular goiter are as follows:[1][2][3][4]

Genetic Causes

  • The development of multi-nodular goiter is the result of multiple genetic base substitution mutations on exon 10 of chromosome 14q31.
Frequency of mutation (TSHr gene codon base substitution amino acid change
Common 486 ATC/ATG Ile/Met
Common 632 ACC/ATC Thr/Ile
Less common 619 GAT/GGT Asp/Gly
Less common 623 GCC/GTC Ala/Val
Less common 629 TTG/TTT Leu/Phe
Less common 630 ATC/CTC Ile/Leu
Less common 633 GAC/GAG Asp/Glu
Less common 639 CCA/TCA Pro/Ser

Causes by Organ System

Cardiovascular No underlying causes
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic No underlying causes
Drug Side Effect No underlying causes
Ear Nose Throat No underlying causes
Endocrine No underlying causes
Environmental No underlying causes
Gastroenterologic No underlying causes
Genetic The development of multi-nodular goiter is the result of multiple genetic base substitution mutations on exon 10 of chromosome 14q31.
Hematologic No underlying causes
Iatrogenic No underlying causes
Infectious Disease No underlying causes
Musculoskeletal/Orthopedic No underlying causes
Neurologic No underlying causes
Nutritional/Metabolic No underlying causes
Obstetric/Gynecologic No underlying causes
Oncologic No underlying causes
Ophthalmologic No underlying causes
Overdose/Toxicity No underlying causes
Psychiatric No underlying causes
Pulmonary No underlying causes
Renal/Electrolyte No underlying causes
Rheumatology/Immunology/Allergy No underlying causes
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Miscellaneous No underlying causes

Causes in Alphabetical Order

List the causes of the disease in alphabetical order.

The unnamed parameter 2= is no longer supported. Please see the documentation for {{columns-list}}.
3

References

  1. ↑ "DICER1 mutations in Familial Multi-Nodular Goiter with and without Ovarian Sertoli-Leydig Cell Tumors".
  2. ↑ "TSH-receptor autoantibodies - differentiation of hyperthyroidism between Graves' disease and toxic multinodular goitre. - PubMed - NCBI".
  3. ↑ "Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma. - PubMed - NCBI".
  4. ↑ "Hyperfunctioning Thyroid Nodules in Toxic Multinodular Goiter Share Activating Thyrotropin Receptor Mutations with Solitary Toxic Adenoma1 | The Journal of Clinical Endocrinology & Metabolism | Oxford Academic".

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