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Article

A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.

Thyroid : official journal of the American Thyroid Association - 1 Aug 2015

Pappa Theodora, Johannesen Jesper, Scherberg Neal, Torrent Maricel, Dumitrescu Alexandra, Refetoff Samuel

Abstract excerpt

BACKGROUND: Thyrotropin (TSH) deficiency caused by TSHβ gene mutations is a rare form of congenital central hypothyroidism. Nine different TSHβ gene mutations have been reported, all with clinical manifestations. The aim was to identify the genetic cause of undetectable TSH levels in two siblings with clinical euthyroidism. METHODS: Two brothers born to consanguineous Pakistani parents presented with undetectable...

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Identifiers

PMID: 25950606
DOI: 10.1089/thy.2015.0096
PMCID: PMC4533086

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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