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__NOTOC__ | __NOTOC__ | ||
{{Cretinism}} | {{Cretinism}} | ||
{{CMG}} | {{CMG}}; {{AE}} {{AEL}} | ||
==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== | ||
=== 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}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category: | [[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]
- Congenital causes:
- Acquired causes:
- Autoimmune diseases
- Antibodies pass placenta cause hypothyroidism
- Antithyroid medications usage that can cross the placenta
- Iodine deficiency
- Inability to uptake iodide
Secondary (central) hypothyroidism
Central hypothyroidism is caused by:[3]
- Inflammation or infection of pituitary gland and hypothalamus
- Trauma
- Structural changes
- Untreated maternal hypothyroidism during 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:[4][5]
Causes in Alphabetical Order
List the causes of the disease in alphabetical order.
- Antibodies
- Antithyroid medications
- Autoimmune diseases
- Ectopic thyroid gland
- Iodine deficiency
- Infection
- Inflammation
- Maternal hypothyroidism
- Structural changes
- Thyroid dysgenesis
- Thyroid dyshormonogenesis
- Trauma
References
- ↑ 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.
- ↑ Wassner AJ (2017). "Pediatric Hypothyroidism: Diagnosis and Treatment". Paediatr Drugs. 19 (4): 291–301. doi:10.1007/s40272-017-0238-0. PMID 28534114.
- ↑ 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.
- ↑ 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.
- ↑ 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.