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
Patients develop hypothyroidism with a goiter.[citation needed]
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
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
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
External links
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