Autonomous thyroid adenoma: only an adulthood disease?

J Pediatr. 2009 Jun;154(6):931-3.e2. doi: 10.1016/j.jpeds.2008.12.019.

Abstract

We identified somatic activating thyrotropin-receptor gene mutations within autonomous thyroid nodules (ATN) in 2 girls with 1 ATN and in 1 girl with 3 ATN. A fourth patient had a somatic activating gene mutation of the alpha-subunit of the stimulating G-protein in 2 ATN. Activating somatic mutations in ATN can cause non-autoimmune hyperthyroidism in children.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Female
  • Humans
  • Hyperthyroidism / etiology
  • Male
  • Mutation
  • Receptors, Thyrotropin / genetics
  • Thyroid Hormones / metabolism
  • Thyroid Neoplasms / complications
  • Thyroid Neoplasms / diagnosis*
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / metabolism

Substances

  • Receptors, Thyrotropin
  • Thyroid Hormones