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Prevalence of activating thyrotropin receptor and Gsα gene mutations in paediatric thyroid toxic adenomas: a multicentric Italian study
Author(s) -
Agretti P.,
Segni M.,
Marco G.,
Ferrarini E.,
Cosmo C.,
Corrias A.,
Weber G.,
Larizza D.,
Calcaterra V.,
Pelizzo M. R.,
Cesaretti G.,
Vitti P.,
Tonacchera M.
Publication year - 2013
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12158
Subject(s) - medicine , university hospital , pediatrics , family medicine , library science , computer science
Toxic thyroid adenomas or functioning nodules are rare in children\udand adolescents, representing less than 3% of all causes of\udhyperthyroidism.1 Somatic gain-of-function mutations of the\udTSHr gene (accession number NM_00369) have been identified\udas a cause of toxic thyroid adenomas and functioning nodules of\udtoxic multinodular goitre in the adult.2 In patients with toxic\udthyroid adenomas coming from an area of iodine deficiency,\udactivating somatic mutations in the TSHr gene have been\uddetected in up to 80% and in the Gsa gene up to 25%, suggesting\udthat these genetic anomalies may play a role in the pathogenesis\udof functioning nodules in adults. In contrast, the\udincidence of gain-of-function somatic mutations of the TSHr or\udGsa genes in rare toxic thyroid adenoma in the paediatric population\udis poorly understood.3 In this study, we searched for\udsomatic mutations of TSHr and Gsa genes in a group of nine\udchildren affected by toxic thyroid adenomas or functioning\udnodules that had undergone surgery