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Article

[Molecular pathology of congenital pituitary hypothyroidism--discovery of new clinical entities].

Rinsho byori. The Japanese journal of clinical pathology - 1 May 1993

Tatsumi K, Amino N, Miyai K

Abstract excerpt

Congenital pituitary hypothyroidism (pituitary cretinism) results in severe mental and growth retardation when it is not treated soon after birth. Since the introduction of neonatal mass screening of thyrotropin (TSH), most congenital hypothyroidism has been detected except for pituitary and hypothalamic hypothyroidism. In 1971, we reported the first familial case of congenital isolated TSH deficiency and...

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Source

Identifiers

PMID: 8350517

Genes

PRL

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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.

Related research

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[Molecular pathology of congenital pituitary hypothyroidism--discovery of new clinical entities].PMID 8350517Read ↗

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[Pituitary specific transcription factor Pit-1/GHF-1 and combined pituitary hormone deficiency].Semantic proximity Read ↗

A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.Semantic proximity Read ↗

[The pituitary specific transcription factor Pit-1/GHF-1 and PIT1 abnormality].Semantic proximity Read ↗

[Molecular-genetic aspects of congenital hypothyroidism].Semantic proximity Read ↗

A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus.Semantic proximity Read ↗

Genetics of congenital hypothyroidism: Modern conceptsSemantic proximity Read ↗

[Genetic of congenital hypothyroidism].Semantic proximity Read ↗

PIT1 abnormality.Semantic proximity Read ↗

GH and TSH deficiency.Semantic proximity Read ↗

Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.Semantic proximity Read ↗

Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene.Semantic proximity Read ↗

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