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Article

Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina.

Thyroid : official journal of the American Thyroid Association - 1 Jun 2003

Deladoëy Johnny, Vuissoz Jean-Marc, Domené Horacio M, Malik Naseem, Gruneiro-Papendieck Laura, Chiesa Ana, Heinrich Juan J, Mullis Primus E

Abstract excerpt

We identified five patients with congenital secondary hypothyroidism with isolated thyrotropin (TSH) deficiency originating from three and two unrelated Argentinean and Swiss families, respectively. The affected patients presented with both low TSH as well as low thyroid hormone levels. Further, TSH-releasing hormone (TRH) stimulation failed to increase serum TSH, whereas prolactin increased adequately. These...

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Identifiers

PMID: 12930599
DOI: 10.1089/105072503322238818

Genes

TRH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina.PMID 12930599Read ↗

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