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==Overview==
==Overview==
Cretinism may be caused by congenital causes like [[thyroid dysgenesis]] and [[ectopic]] [[thyroid gland]]. Cretinism may be caused by other causes like [[Antithyroid agents|antithyroid medications]] and [[iodine deficiency]].
==Causes==
==Causes==
===Endemic Cretinism and Iodine Deficiency===
Endemic cretinism arises from a diet deficient in [[iodine]] and has affected far more people worldwide and continues to be a major [[public health]] problem in many countries. Iodine is an essential [[trace element]], necessary primarily for the synthesis of [[thyroid hormones]]. Although it is found in many foods it is not universally present in all soils in adequate amounts. The soils of many inland areas on all continents are iodine deficient, and plants and animals grown there are correspondingly deficient. Populations living in those areas without outside food sources are most at risk for [[iodine deficiency]] diseases.<ref>Epidemiology of Iodine Deficiency; Trends in Endocrinology and Metabolism 3(5), 170-175, 1992</ref>


Iodine deficiency results in the impairments of varying degrees of physical and mental development. It also causes gradual enlargement of the thyroid gland, referred to as a [[Goitre]]. It is being combatted in many countries by public health campaigns of iodine administration.
=== Primary cretinism ===
 
====Common Causes====
Primary Cretinism may be caused by:<ref name="pmid20083154">{{cite journal| author=Persani L, Calebiro D, Cordella D, Weber G, Gelmini G, Libri D et al.| title=Genetics and phenomics of hypothyroidism due to TSH resistance. | journal=Mol Cell Endocrinol | year= 2010 | volume= 322 | issue= 1-2 | pages= 72-82 | pmid=20083154 | doi=10.1016/j.mce.2010.01.008 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20083154  }}</ref><ref name="pmid28534114">{{cite journal| author=Wassner AJ| title=Pediatric Hypothyroidism: Diagnosis and Treatment. | journal=Paediatr Drugs | year= 2017 | volume= 19 | issue= 4 | pages= 291-301 | pmid=28534114 | doi=10.1007/s40272-017-0238-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28534114  }}</ref>
* '''Congenital causes:'''
**[[Thyroid dysgenesis]]
**[[Thyroid]] [[dyshormonogenesis]]
**[[Ectopic]] [[thyroid gland]] 
*'''Acquired causes:'''
**[[Autoimmune diseases]]
**[[Antibodies]] pass [[placenta]] cause [[hypothyroidism]]
**[[Antithyroid agents|Antithyroid medications]] usage that can cross the [[placenta]] 
**[[Iodine deficiency]] 
**Inability to uptake [[iodide]] 
 
=== Secondary (central) hypothyroidism ===
Central hypothyroidism is caused by:<ref name="pmid14671180">{{cite journal| author=Kempers MJ, van Tijn DA, van Trotsenburg AS, de Vijlder JJ, Wiedijk BM, Vulsma T| title=Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. | journal=J Clin Endocrinol Metab | year= 2003 | volume= 88 | issue= 12 | pages= 5851-7 | pmid=14671180 | doi=10.1210/jc.2003-030665 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14671180  }}</ref>
* [[Inflammation]] or [[infection]] of [[pituitary gland]] and [[hypothalamus]]
* [[Trauma]]
* Structural changes
* Untreated maternal [[hypothyroidism]] during [[Cardiac disease in pregnancy epidemiology and demographics|pregnancy]]
 
===Genetic Causes===
*Cretinism is caused by a [[mutation]] in the TTF-2 gene.
*Cretinism is caused by a mutation in the genes responsible for the [[thyroid hormone]] secretion. These genes include the following:<ref name="pmid21900383">{{cite journal| author=Narumi S, Muroya K, Asakura Y, Aachi M, Hasegawa T| title=Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. | journal=J Clin Endocrinol Metab | year= 2011 | volume= 96 | issue= 11 | pages= E1838-42 | pmid=21900383 | doi=10.1210/jc.2011-1573 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21900383  }}</ref><ref name="pmid18426362">{{cite journal| author=Ohye H, Fukata S, Hishinuma A, Kudo T, Nishihara E, Ito M et al.| title=A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter. | journal=Thyroid | year= 2008 | volume= 18 | issue= 5 | pages= 561-6 | pmid=18426362 | doi=10.1089/thy.2007.0258 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18426362  }}</ref>
**[[DUOX2|Dual oxidase 2 gene (DUOX 2)]]
**[[Thyroglobulin|Thyroglobulin gene (TG)]]
**[[Thyroid peroxidase|Thyroid peroxidase gene (TPO)]]
**[[Thyroid-stimulating hormone|Thyroid stimulating hormone receptor gene (TSHR)]] 
 
===Causes in Alphabetical Order===
List the causes of the disease in alphabetical order.
{{columns-list|
*[[Antibodies]]
*[[Antithyroid agents|Antithyroid medications]]
*[[Autoimmune diseases]]
*[[Ectopic]] [[thyroid gland]]
*[[Iodine deficiency]]
*[[Infection]]
*[[Inflammation]]
*Maternal [[hypothyroidism]]
*Structural changes
*[[Thyroid dysgenesis]]
*Thyroid dyshormonogenesis
*[[Trauma]]
}}
 
==References==
==References==
{{reflist|2}}
{{Reflist|2}}
 
{{WH}}
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{{WS}}
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[[Category:Congenital disorders]]
​​[[Category:Medicine]]
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Up-To-Date]]​
[[Category:Pediatrics]]

Latest revision as of 20:40, 10 January 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Cretinism may be caused by congenital causes like thyroid dysgenesis and ectopic thyroid gland. Cretinism may be caused by other causes like antithyroid medications and iodine deficiency.

Causes

Primary cretinism

Common Causes

Primary Cretinism may be caused by:[1][2]

Secondary (central) hypothyroidism

Central hypothyroidism is caused by:[3]

Genetic Causes

Causes in Alphabetical Order

List the causes of the disease in alphabetical order.

References

  1. Persani L, Calebiro D, Cordella D, Weber G, Gelmini G, Libri D; et al. (2010). "Genetics and phenomics of hypothyroidism due to TSH resistance". Mol Cell Endocrinol. 322 (1–2): 72–82. doi:10.1016/j.mce.2010.01.008. PMID 20083154.
  2. Wassner AJ (2017). "Pediatric Hypothyroidism: Diagnosis and Treatment". Paediatr Drugs. 19 (4): 291–301. doi:10.1007/s40272-017-0238-0. PMID 28534114.
  3. Kempers MJ, van Tijn DA, van Trotsenburg AS, de Vijlder JJ, Wiedijk BM, Vulsma T (2003). "Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed". J Clin Endocrinol Metab. 88 (12): 5851–7. doi:10.1210/jc.2003-030665. PMID 14671180.
  4. Narumi S, Muroya K, Asakura Y, Aachi M, Hasegawa T (2011). "Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients". J Clin Endocrinol Metab. 96 (11): E1838–42. doi:10.1210/jc.2011-1573. PMID 21900383.
  5. Ohye H, Fukata S, Hishinuma A, Kudo T, Nishihara E, Ito M; et al. (2008). "A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter". Thyroid. 18 (5): 561–6. doi:10.1089/thy.2007.0258. PMID 18426362.

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