Thyroid dyshormonogenesis
Thyroid dyshormonogenesis | |
---|---|
Specialty | Endocrinology |
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.
Types
One particular familial form is associated with sensorineural deafness (Pendred's syndrome).
OMIM includes the following:
Type | OMIM | Gene |
---|---|---|
Type 1 | Template:OMIM2 | SLC5A5 |
Type 2A | Template:OMIM2 | TPO |
Type 2B | Template:OMIM2 (Pendred) | SLC26A4 |
Type 3 | Template:OMIM2 | ? |
Type 4 | Template:OMIM2 | IYD |
Type 5 | Template:OMIM2 | ? |
Type 6 | Template:OMIM2 | DUOX2 |
References
- ^ 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.
{{cite journal}}
: Explicit use of et al. in:|author=
(help)CS1 maint: multiple names: authors list (link) - ^ Kumar PG, Anand SS, Sood V, Kotwal N (December 2005). "Thyroid dyshormonogenesis" (PDF). Indian Pediatr. 42 (12): 1233–5. PMID 16424561.
{{cite journal}}
: CS1 maint: multiple names: authors list (link)
This template is no longer used; please see Template:Endocrine pathology for a suitable replacement