Thyroid dyshormonogenesis

Thyroid dyshormonogenesis is a rare condition due to genetic defects in the synthesis of thyroid hormones.

It is due to either deficiency of thyroid enzymes, inability to concentrate, or ineffective binding.

Signs and symptoms
Patients develop hypothyroidism with a goiter.

Cause
This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase enzymes

Types
One particular familial form is associated with sensorineural deafness (Pendred's syndrome).

OMIM includes the following:

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.