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.
Copyright © 2012 Elsevier Masson SAS. All rights reserved.
MeSH terms
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Adenoma / congenital
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Adenoma / diagnosis
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Adenoma / drug therapy
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Adenoma / genetics
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Adenoma / metabolism
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Adenoma / surgery*
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Amino Acid Substitution
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Exons / genetics
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Hormone Replacement Therapy
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Humans
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Hyperplasia
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Hyperthyroidism / congenital
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Hyperthyroidism / etiology*
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Infant, Newborn
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Male
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Methimazole / therapeutic use
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Mutation, Missense
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Receptors, Thyrotropin / genetics*
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Thoracic Surgery, Video-Assisted / methods*
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Thyroid Neoplasms / congenital
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Thyroid Neoplasms / diagnosis
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Thyroid Neoplasms / drug therapy
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Thyroid Neoplasms / genetics
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Thyroid Neoplasms / metabolism
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Thyroid Neoplasms / surgery*
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Thyroid Nodule / congenital*
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Thyroidectomy / methods*
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Thyroxine / therapeutic use
Substances
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Receptors, Thyrotropin
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Methimazole
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Thyroxine