Cretinism causes: Difference between revisions
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Cretinism may be caused by [cause1], [cause2], or [cause3]. | Cretinism may be caused by [cause1], [cause2], or [cause3]. | ||
==Causes== | ==Causes== | ||
===Common Causes=== | |||
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> | === Primary cretinism === | ||
* | |||
*Thyroid | ====Common Causes==== | ||
*Ectopic thyroid | 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 | |||
*Iodine deficiency | |||
*Inability to uptake iodide | *Inability to uptake iodide | ||
*Deiodinase defect | *Deiodinase defect | ||
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===Genetic Causes=== | ===Genetic Causes=== | ||
*Cretinism is caused by a mutation in the TTF-2 gene. | *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> | |||
**Dual oxidase 2 gene (DUOX 2) | |||
**Thyroglobulin gene (TG) | |||
**Thyroid peroxidase (gene (TPO) | |||
**Thyroid stimulating hormone receptor gene (TSHR) | |||
===Causes in Alphabetical Order=== | ===Causes in Alphabetical Order=== | ||
Revision as of 15:40, 21 August 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Cretinism may be caused by [cause1], [cause2], or [cause3].
Causes
Primary cretinism
Common Causes
Primary Cretinism may be caused by:[1][2]
- Congenital causes:
- Thyroid dysgenesis
- Thyroid dyshormonogenesis
- Ectopic thyroid
- Iodine deficiency
- Inability to uptake iodide
- Deiodinase defect
- Organification impairment
- Mother related causes:
- Autoimmune diseases
- Antibodies pass placenta cause hypothyroidism
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:[3]
- Dual oxidase 2 gene (DUOX 2)
- Thyroglobulin gene (TG)
- Thyroid peroxidase (gene (TPO)
- Thyroid stimulating hormone receptor gene (TSHR)
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}}.
3References
- ↑ 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.
- ↑ 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.