Cretinism pathophysiology: Difference between revisions
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*Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3]. | *Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3]. | ||
*The development of [disease name] is the result of multiple genetic mutations. | *The development of [disease name] is the result of multiple genetic mutations. | ||
*Cretinism can occur due to genetic defects include the following: <ref name="pmid11717564">{{cite journal| author=Gillam MP, Kopp P| title=Genetic defects in thyroid hormone synthesis. | journal=Curr Opin Pediatr | year= 2001 | volume= 13 | issue= 4 | pages= 364-72 | pmid=11717564 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11717564 }}</ref> | |||
**Thyrotropin (TSH) resistance, | |||
**Iodine trapping defect, | |||
**Organification defect, thyroglobulin | |||
**Iodotyrosine deiodinase deficiency | |||
*In a small proportion of cases of congenital hypothyroidism, the defect is due to a deficiency of thyroid stimulating hormone, either isolated or as part of congenital hypopituitarism. | |||
==Associated Conditions== | ==Associated Conditions== | ||
Revision as of 20:01, 17 August 2017
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Cretinism Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Background on the thyroid hormone synthesis
Pathogenesis
- It is thought that cretinism is caused by either congenital anomaly in the thyroid gland.
Genetics
Genetic importance in normal thyroid hormone secretion
- [Disease name] is transmitted in [mode of genetic transmission] pattern.
- Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
- The development of [disease name] is the result of multiple genetic mutations.
- Cretinism can occur due to genetic defects include the following: [1]
- Thyrotropin (TSH) resistance,
- Iodine trapping defect,
- Organification defect, thyroglobulin
- Iodotyrosine deiodinase deficiency
- In a small proportion of cases of congenital hypothyroidism, the defect is due to a deficiency of thyroid stimulating hormone, either isolated or as part of congenital hypopituitarism.
Associated Conditions
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Gillam MP, Kopp P (2001). "Genetic defects in thyroid hormone synthesis". Curr Opin Pediatr. 13 (4): 364–72. PMID 11717564.