Thyroid dyshormonogenesis is a rare condition due to genetic defects in the synthesis of thyroid hormones.[1][2]
Thyroid dyshormonogenesis | |
---|---|
Other names | Dyshormogenetic goiter |
Thyroid dyshormonogenesis is inherited in an autosomal recessive manner | |
Specialty | Endocrinology |
It is due to either deficiency of thyroid enzymes, inability to concentrate, or ineffective binding.
Patients develop hypothyroidism with a goiter.[citation needed]
This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase enzymes[citation needed]
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 |
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]