Autonomous thyroid adenoma: only an adulthood disease?

Karl Otfried Schwab; Nicole Pfarr; Natascha van der Werf-Grohmann; Martin Pohl; Jochen Rädecke; Thomas Musholt; Joachim Pohlenz

doi:10.1016/j.jpeds.2008.12.019

Autonomous thyroid adenoma: only an adulthood disease?

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

Authors

Karl Otfried Schwab¹, Nicole Pfarr, Natascha van der Werf-Grohmann, Martin Pohl, Jochen Rädecke, Thomas Musholt, Joachim Pohlenz

Affiliation

¹ Department of Pediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany. karl.otfried.schwab@uniklinikfreiburg.de

PMID: 19446102
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