Cretinism pathophysiology: Difference between revisions
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===Pathogenesis=== | ===Pathogenesis=== | ||
*It is thought that cretinism is caused by | *It is thought that cretinism is caused by a congenital anomaly in the thyroid gland. | ||
*Different mechanisms causing congenital hypothyroidism include the following: | *Different mechanisms causing congenital hypothyroidism include the following: | ||
** Thyroid dysgenesis: | ** Thyroid dysgenesis:<ref name="pmid11232006">{{cite journal| author=Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P et al.| title=Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. | journal=J Clin Endocrinol Metab | year= 2001 | volume= 86 | issue= 1 | pages= 234-8 | pmid=11232006 | doi=10.1210/jcem.86.1.7140 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11232006 }}</ref> | ||
*** Thyroid dysgenesis is the most common cause of congenital hypothyroidism. | |||
*** | *** | ||
*** It is believed that thyroid dysgenesis is caused by a mutation in some genes responsible for thyroid formation and function. These genes include the following: | |||
**** | |||
** Resistance to thyrotropin: | ** Resistance to thyrotropin: | ||
Revision as of 17:51, 29 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
Pathogenesis
- It is thought that cretinism is caused by a congenital anomaly in the thyroid gland.
- Different mechanisms causing congenital hypothyroidism include the following:
- Thyroid dysgenesis:[1]
- Thyroid dysgenesis is the most common cause of congenital hypothyroidism.
- It is believed that thyroid dysgenesis is caused by a mutation in some genes responsible for thyroid formation and function. These genes include the following:
- Resistance to thyrotropin:
- Thyroid dysgenesis:[1]
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: [2]
- 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
- ↑ Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P; et al. (2001). "Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8". J Clin Endocrinol Metab. 86 (1): 234–8. doi:10.1210/jcem.86.1.7140. PMID 11232006.
- ↑ Gillam MP, Kopp P (2001). "Genetic defects in thyroid hormone synthesis". Curr Opin Pediatr. 13 (4): 364–72. PMID 11717564.