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Hypothyroidism due to TSH receptor mutations
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
ORPHA:90673Classification level: Disorder
- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal recessive or Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: E03.1
- OMIM: 275200
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Resistance to TSH occurs in about 5% of cases of permanent congenital hypothyroidism.
Clinical manifestations are those of other forms of congenital hypothyroidism (CH; see this term). Goiter is always absent.
Mutations in the TSH receptor gene (TSHR; 14q31) result in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia (see this term).