Thyroid dyshormonogenesis explained

Thyroid dyshormonogenesis
Synonyms:	Dyshormogenetic goiter

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.

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:

Type	OMIM	Gene
Type 1		SLC5A5
Type 2A		TPO
Type 2B	(Pendred)	SLC26A4
Type 3		TG
Type 4		IYD
Type 5		DUOXA2
Type 6		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.

Notes and References

1. Avbelj M, Tahirovic H, Debeljak M, etal . High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis . Eur. J. Endocrinol. . 156 . 5 . 511–9 . May 2007 . 17468186 . 10.1530/EJE-07-0037 . free .
2. Kumar PG, Anand SS, Sood V, Kotwal N . Thyroid dyshormonogenesis . Indian Pediatr . 42 . 12 . 1233–5 . December 2005 . 16424561 .