Thyroid dyshormonogenesis
| Thyroid dyshormonogenesis | |
|---|---|
 | |
| Thyroid dyshormonogenesis is inherited in an autosomal recessive manner | |
| Specialty |
Endocrinology  |
Thyroid dyshormonogenesis (or dyshormogenetic goiter) is a rare condition due to genetic defects in the synthesis of thyroid hormones.[1][2]
Patients develop hypothyroidism with a goitre.either deficiency of thyroid enzymes or inability to concentrate or ineffective binding
Diagnosis
Types
One particular familial form is associated with sensorineural deafness (Pendred's syndrome).
OMIM includes the following:
| Type | OMIM | Gene |
|---|---|---|
| Type 1 | 274400 | SLC5A5 |
| Type 2A | 274500 | TPO |
| Type 2B | 274600 (Pendred) | SLC26A4 |
| Type 3 | 274700 | ? |
| Type 4 | 274800 | IYD |
| Type 5 | 274900 | ? |
| Type 6 | 607200 | DUOX2 |
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 |
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