Resistance to thyroid hormone caused by a mutation of the thyroid β receptor gene in a family over three generations

Endokrynol Pol. 2021;72(1):85-86. doi: 10.5603/EP.a2020.0089. Epub 2021 Feb 23.

Abstract

Not required for Clinical Vignette.

Keywords: genetic; mutation; thyroid disease.

MeSH terms

  • Female
  • Goiter / genetics
  • Humans
  • Hyperthyroidism / genetics
  • Hyperthyroidism / metabolism*
  • Male
  • Pedigree
  • Thyroid Hormone Resistance Syndrome / genetics
  • Thyroid Hormone Resistance Syndrome / metabolism*
  • Thyroid Hormones / metabolism*

Substances

  • Thyroid Hormones