title: Autonomous thyroid adenoma: only an adulthood disease?
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.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany. karl.otfried.schwab@uniklinikfreiburg.de
authors.forename: Karl Otfried
authors.initials: KO
authors.lastname: Schwab
authors.forename: Nicole
authors.initials: N
authors.lastname: Pfarr
authors.forename: Natascha
authors.initials: N
authors.lastname: van der Werf-Grohmann
authors.forename: Martin
authors.initials: M
authors.lastname: Pohl
authors.forename: Jochen
authors.initials: J
authors.lastname: Rädecke
authors.forename: Thomas
authors.initials: T
authors.lastname: Musholt
authors.forename: Joachim
authors.initials: J
authors.lastname: Pohlenz
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D006980:Hyperthyroidism / Q000209:etiology; D008297:Male; D009154:Mutation; D011989:Receptors, Thyrotropin / Q000235:genetics; D013963:Thyroid Hormones / Q000378:metabolism; D013964:Thyroid Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
chemical_list: D011989:Receptors, Thyrotropin; D013963:Thyroid Hormones