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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...

Topics

Adult
Congenital Hypothyroidism
Female
Genes, Recessive
Humans
Male
Mutation
Pedigree
Receptors, Thyrotropin
Thyrotropin
Thyrotropin-Releasing Hormone
Triiodothyronine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8263143
DOI: 10.1210/jcem.77.6.8263143

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8263143-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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

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