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Article

Familial unresponsiveness to thyrotropin by autosomal recessive inheritance.

The Journal of clinical endocrinology and metabolism - 1 Dec 1993

Takamatsu J, Nishikawa M, Horimoto M, Ohsawa N

Abstract excerpt

Unresponsiveness to TSH has been identified and sufficiently studied in only three patients. We report siblings with this defect as the first documentation of familial occurrence. A 26-yr-old woman was diagnosed with congenital hypothyroidism during infancy. The thyroid was atrophic, and thyroid function tests without T4 replacement showed serum free T4 levels below 3 pmol/L, serum TSH of 125 mU/L, and serum...

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Identifiers

PMID: 8263143
DOI: 10.1210/jcem.77.6.8263143

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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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Familial unresponsiveness to thyrotropin by autosomal recessive inheritance.PMID 8263143Read ↗

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Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness.Semantic proximity Read ↗

Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.Semantic proximity Read ↗

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