Orphanet: Hypothyroidism due to TSH receptor mutations
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Hypothyroidism due to TSH receptor mutations

Disease definition

A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

ORPHA:90673

Classification 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: -

Summary

Epidemiology

Resistance to TSH occurs in about 5% of cases of permanent congenital hypothyroidism.

Clinical description

Clinical manifestations are those of other forms of congenital hypothyroidism (CH; see this term). Goiter is always absent.

Etiology

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).

Expert reviewer(s):  Dr Stephen LAFRANCHI - Dr Maynika RASTOGI - Last update: August 2010

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

Detailed information

Guidelines

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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