Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Familial hyperthyroidism due to mutations in TSH receptor

Orpha number ORPHA424
Synonym(s) Familial non-immune hyperthyroidism
Resistance to thyroid stimulating hormone
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Variable
ICD-10
  • E05.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Familial hyperthyroidism due to mutations in thyroid stimulating hormone (TSH) receptor is a hereditary non-autoimmune hyperthyroidism. It is characterized by the presence of signs and symptoms of hyperthyroidism and diffuse goiter without evidence of an autoimmune etiology. The incidence is unknown; at present, a few families and a few sporadic cases with a de novo TSHR mutation, mostly from Caucasian populations, have been described. The age of onset is highly variable and it may be present in infants or develop in adulthood. The size of goiter is variable and it may be minimal or absent in young patients: however, once present, continuous growth is systematically observed. Differential diagnosis is based on the absence of the typical signs of autoimmune hyperthyroidism, such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland. The diseases is transmitted as an autosomal dominant trait. The absence of a clear correlation between mutant genotypes and phenotypic expression of the disease limits the prognostic value of genetic testing in families with hereditary non-autoimmune hyperthyroidism. Gain-of-function germline mutations occur preferentially in the transmembrane domain of the TSH-R, resulting in familial non-autoimmune hyperthyroidism. Familial gestational hyperthyroidism is due to a mutant TSH-R which is hypersensitive to chorionic gonadotropin. Management is based on drastic ablative therapy (surgery or radioiodine) to control the disease once the patient has become hyperthyroid.

Expert reviewer(s)

  • Dr Franco ARTURI
  • Pr Diego RUSSO

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Clinical practice guidelines
  • DE (2011)
Get Acrobat Reader
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.