Familial thyroid dyshormonogenesis
ORPHA:95716· ICD-10 E03.0
Definition
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal