Disease - Hypothyroidism, congenital, non-goitrous, 1

  • Definition
    A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.
  • Acronym
    CHNG1
  • Alternative names
    • Congenital hypothyroidism due to TSH resistance
    • Hypothyroidism due to unresponsiveness to thyrotropin
    • Non-autoimmune hypothyroidism
    • RTSH
    • Thyroid-stimulating hormone resistance
  • Cross references

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

Related UniProtKB entry

Browse 1 entry
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp