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Resistance to thyrotropin-releasing hormone syndrome

Disease definition

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

ORPHA:99832

Classification level: Disorder
  • Synonym(s):
    • Central hypothyroidism due to TRH receptor deficiency
    • TRH resistance syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E03.1
  • ICD-11: 5A00.01
  • OMIM: 618573
  • UMLS: C4511136
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown.

Clinical description

The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include 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. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age.

Etiology

Resistance to TRH is caused by mutations in the TRH receptor gene (TRHR; 8q23).

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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.