Autonomous thyroid adenoma: only an adulthood disease?
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.
Schwab
Karl Otfried
KO
Department of Pediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany. karl.otfried.schwab@uniklinikfreiburg.de
Pfarr
Nicole
N
van der Werf-Grohmann
Natascha
N
Pohl
Martin
M
Rädecke
Jochen
J
Musholt
Thomas
T
Pohlenz
Joachim
J
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
D011989:Receptors, Thyrotropin; D013963:Thyroid Hormones