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A Novel TSH Receptor Gene Variant Associated with Non-Autoimmune Hyperthyrotropinemia: A Case Report.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2024

Piva Ilaria, Censi Simona, Manso Jacopo, Barollo Susi, Bertazza Loris, Scaroni Carla, Mian Caterina, Barbot Mattia

Abstract excerpt

BACKGROUND: Resistance to TSH is defined as reduced sensitivity to normal, biologicallyactive TSH, and abnormally high levels of TSH are needed to achieve normal levels of thyroid hormones. CASE PRESENTATION: A 15-year-old female patient, having been treated since childhood with levothyroxine for hyperthyrotropinemia was referred to our institution complaining of tachycardia after the levothyroxine therapy had...

Topics

Female
Humans
Child
Adolescent
Receptors, Thyrotropin
Thyroxine
Congenital Hypothyroidism
Thyroid Function Tests
Mutation
Thyrotropin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37622708
DOI: 10.2174/1871530323666230824153915

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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