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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 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

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]}