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.

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

Diagnosis

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.

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