Thyroid dyshormonogenesis
Thyroid dyshormonogenesis | |
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Other names | Dyshormogenetic goiter |
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Thyroid dyshormonogenesis is inherited in an autosomal recessive manner | |
Specialty | Endocrinology ![]() |
Thyroid dyshormonogenesis is a rare condition due to genetic defects in the synthesis of thyroid hormones.[1][2]
Patients develop hypothyroidism with a goiter. It is due to either deficiency of thyroid enzymes, inability to concentrate, or ineffective binding.
Cause[]
This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase enzymes[citation needed]
Diagnosis[]
Types[]
One particular familial form is associated with sensorineural deafness (Pendred's syndrome).[citation needed]
OMIM includes the following:
Type | OMIM | Gene |
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Type 1 | 274400 | SLC5A5 |
Type 2A | 274500 | TPO |
Type 2B | 274600 (Pendred) | SLC26A4 |
Type 3 | 274700 | TG |
Type 4 | 274800 | IYD |
Type 5 | 274900 | DUOXA2 |
Type 6 | 607200 | DUOX2 |
Treatment[]
These patients respond well to levothyroxine (synthetic T4) and the goiter may decrease in size if any. They may not require surgery at any time.[citation needed]
References[]
- ^ Avbelj M, Tahirovic H, Debeljak M, et al. (May 2007). "High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis". Eur. J. Endocrinol. 156 (5): 511–9. doi:10.1530/EJE-07-0037. PMID 17468186.
- ^ Kumar PG, Anand SS, Sood V, Kotwal N (December 2005). "Thyroid dyshormonogenesis" (PDF). Indian Pediatr. 42 (12): 1233–5. PMID 16424561.
External links[]
Classification | |
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External resources |
Categories:
- Thyroid disease
- Membrane transport protein disorders
- Congenital disorders of endocrine system
- Endocrine, nutritional and metabolic disease stubs