Thyroid dyshormonogenesis

Thyroid dyshormonogenesis is a rare condition due to genetic defects in the synthesis of thyroid hormones.[1][2]

Thyroid dyshormonogenesis
Other namesDyshormogenetic goiter
Thyroid dyshormonogenesis is inherited in an autosomal recessive manner
SpecialtyEndocrinology 

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 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.

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.


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