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Peripheral resistance to thyroid hormones

Orpha number ORPHA97927
Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • E03.1
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Prevalence is estimated to be 1/40,000.

The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia.

In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta.

Expert reviewer(s)

  • Dr Stephen LAFRANCHI
  • Dr Maynika RASTOGI

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Detailed information

Review article
  • EN (2010)
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