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Article

Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.

Hormone research - 1 Jan 1998

Brown M R, Parks J S, Adess M E, Rich B H, Rosenthal I M, Voss T C, VanderHeyden T C, Hurley D L

Abstract excerpt

Mutations in the gene encoding the Pit-1 transcriptional activator interfere with the embryologic determination and ultimate functions of anterior pituitary cells that produce growth hormone (GH), prolactin (Prl) and thyroid-stimulating hormone (TSH). Central hypothyroidism is often the presenting feature of combined pituitary hormone deficiency (CPHD), but it is not detected in screening programs that rely upon...

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Identifiers

PMID: 9485179
DOI: 10.1159/000023134

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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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Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.PMID 9485179Read ↗

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

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Combined pituitary hormone deficiency: role of Pit-1 and Prop-1.Semantic proximity Read ↗

Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.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 ↗

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.Semantic proximity Read ↗

GH and TSH deficiency.Semantic proximity Read ↗

Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.Semantic proximity Read ↗

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Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone DeficiencySemantic proximity Read ↗

"Hot Spot" in the PROP1 Gene Responsible for Combined Pituitary Hormone DeficiencySemantic proximity Read ↗

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