Thyroid dyshormonogenesis

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Thyroid dyshormonogenesis
Other namesDyshormogenetic goiter
Thyroid dyshormonogenesis is inherited in an autosomal recessive manner
SpecialtyEndocrinology Edit this on Wikidata

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