title: Mini-invasive videoassisted thyroid lobectomy for neonatal hyperfunctioning adenoma related to a somatic TSHr gene mutation.
abstract: We report here a case of a paediatric hyperthyroidism due to a micro-macro-follicular thyroid adenoma in the presence of heterozygous point mutation of TSH receptor (TSHr). We describe the case from the initial diagnosis, through laboratoristic examinations and imaging techniques, until the radical surgical treatment made by a mini-cervicotomic videoassisted technique. We also explained the genetic work-up from peripheral blood and thyroid adenoma tissue.
authors.affiliation: Surgery unit, university of Padova, Padova, Italy.
authors.forename: Erica
authors.initials: E
authors.lastname: Stocco
authors.forename: Maria Rosa
authors.initials: MR
authors.lastname: Pelizzo
authors.forename: Gaia
authors.initials: G
authors.lastname: Grassetto
authors.forename: Costantino
authors.initials: C
authors.lastname: Pagetta
authors.forename: Daniela
authors.initials: D
authors.lastname: Larizza
authors.forename: Arianna
authors.initials: A
authors.lastname: Massaro
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Marzola
authors.forename: Domenico
authors.initials: D
authors.lastname: Rubello
mesh_terms: D000236:Adenoma / Q000151:congenital / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000601:surgery*; D019943:Amino Acid Substitution; D005091:Exons / Q000235:genetics; D020249:Hormone Replacement Therapy; D006801:Humans; D006965:Hyperplasia; D006980:Hyperthyroidism / Q000151:congenital / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male; D008713:Methimazole / Q000627:therapeutic use; D020125:Mutation, Missense; D011989:Receptors, Thyrotropin / Q000235:genetics*; D020775:Thoracic Surgery, Video-Assisted / Q000379:methods*; D013964:Thyroid Neoplasms / Q000151:congenital / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000601:surgery*; D016606:Thyroid Nodule / Q000151:congenital*; D013965:Thyroidectomy / Q000379:methods*; D013974:Thyroxine / Q000627:therapeutic use
chemical_list: D011989:Receptors, Thyrotropin; D008713:Methimazole; D013974:Thyroxine