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Article

Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

The Journal of clinical endocrinology and metabolism - 1 May 1998

Doeker B M, Pfäffle R W, Pohlenz J, Andler W

Abstract excerpt

A 5-month-old infant of nonconsanguineous parents had severe hypothyroidism. Undetectable serum levels of T3 and T4 in combination with an undetectable baseline TSH level led to the diagnosis of central hypothyroidism. Administration of TRH failed to increase serum TSH, but not PRL, confirming isolated TSH deficiency. Measurement of the TSH in serum with three different immunoassays that recognize different...

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Source

Identifiers

PMID: 9589689
DOI: 10.1210/jcem.83.5.4780

Genes

PRL
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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.PMID 9589689Read ↗

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Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormone -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSH GeneSemantic proximity Read ↗

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Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.Semantic proximity Read ↗

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