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]
It is due to either deficiency of thyroid enzymes, inability to concentrate, or ineffective binding.
Signs and symptoms
[edit]Patients develop hypothyroidism with a goiter.[citation needed]
Cause
[edit]This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase enzymes[citation needed]
Diagnosis
[edit]Types
[edit]One particular familial form is associated with sensorineural deafness (Pendred's syndrome).[citation needed]
OMIM includes the following:
| Type | OMIM | Gene |
|---|---|---|
| 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
[edit]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
[edit]- ^ 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
[edit]
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