Cretinism causes
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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.
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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.