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]}

References

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

External links