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Article

Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.

American journal of human genetics - 1 May 1990

Dacou-Voutetakis C, Feltquate D M, Drakopoulou M, Kourides I A, Dracopoli N C

Abstract excerpt

Hereditary hypothyroidism caused by thyroid-stimulating hormone (TSH) deficiency is a rare autosomal recessive disease. Affected individuals show symptoms of severe mental and growth retardation that can be prevented by early administration of exogenous thyroid hormone. In this paper, we describe two related Greek families with three children affected by congenital TSH-deficient hypothyroidism. Sequence analysis...

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Identifiers

PMID: 1971148
PMCID: PMC1683608

Genes

TSHB

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.PMID 1971148Read ↗

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Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.Semantic proximity Read ↗

Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and IrelandSemantic proximity Read ↗

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Severe congenital hypothyroidism due to a homozygous mutation of the betaTSH gene.Semantic proximity Read ↗

Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.Semantic proximity Read ↗

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