Thyroid dyshormonogenesis

Thyroid dyshormonogenesis
Classification and external resources
Specialty endocrinology
ICD-10 E07.1
ICD-9-CM 246.1
DiseasesDB 9771

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

Patients develop hypothyroidism with a goitre.


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 ?
Type 4 274800 IYD
Type 5 274900 ?
Type 6 607200 DUOX2


  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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