Orphanet: Resistance to thyrotropin releasing hormone syndrome
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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
  • OMIM: 618573
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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