Autonomous thyroid adenoma: only an adulthood disease?

Schwab, Karl Otfried; Pfarr, Nicole; van der Werf-Grohmann, Natascha; Pohl, Martin; Rädecke, Jochen; Musholt, Thomas; Pohlenz, Joachim · J Pediatr · 2009

case_report · Level V

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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.

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