RESUMEN

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.

Asunto(s)

Neoplasias de la Tiroides/diagnóstico , Adolescente , Niño , Femenino , Humanos , Hipertiroidismo/etiología , Masculino , Mutación , Receptores de Tirotropina/genética , Hormonas Tiroideas/metabolismo , Neoplasias de la Tiroides/complicaciones , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/metabolismo