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 sensorineural deafness ( Pendred's syndrome).^{[ citation needed]}

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.^{[ citation needed]}

References

External links

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