Thyroid dyshormonogenesis
| Thyroid dyshormonogenesis | |
|---|---|
| Other names | Dyshormogenetic goiter |
 | |
| 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
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 |
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.
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
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