Catalog
Primary congenital hypothyroidism due to impaired hormone production
No MMS code
Link to WHO Definition
Primary congenital hypothyroidism due to impaired hormone production – http://id.who.int/icd/entity/1380668940
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.
Parents
Children
- Hypothyroidism with sensorineural deafness
- Congenital hypothyroidism due to dual oxidase maturation factor 2
- Congenital hypothyroidism due to thyroid peroxidase mutations
- Congenital hypothyroidism due to thyroid deiodinase mutations
- Congenital hypothyroidism due to thyroglobulin mutations
- Genetic defect in thyroid hormonogenesis 2B
- Congenital hypothyroidism due to iodine or sodium symporter mutations
- Congenital hypothyroidism due to dual oxidase 2 mutation
- Congenital hypothyroidism due to iodotyrosine deiodinase