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Article

Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.

The Journal of clinical endocrinology and metabolism - 1 Jan 1999

Rosenbloom A L, Almonte A S, Brown M R, Fisher D A, Baumbach L, Parks J S

Abstract excerpt

We have investigated the largest family with PROP1 deficiency reported to date. Eight patients, aged 17-40 yr, in two sibships with possibly related mothers but no parental consanguinity were 109-137 cm in height (-8.8 to [minus]5.9 SD score) and sexually immature. None had received hormonal therapy. Affected individuals had similarities to and significant differences from patients with insulin-like growth factor...

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Source

Identifiers

PMID: 9920061
DOI: 10.1210/jcem.84.1.5366

Genes

PROP1
PRL

Provenance

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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Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.PMID 9920061Read ↗

Clinical and Biochemical Phenotype of Familial Anterior Hypopituitarism from Mutation of the PROP1 GeneSemantic proximity Read ↗

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An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.Semantic proximity Read ↗

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).Semantic proximity Read ↗

Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.Semantic proximity Read ↗

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

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.Semantic proximity Read ↗

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.Semantic proximity Read ↗

Clinical characteristics of a pediatric cohort of patients with combined pituitary insufficiency caused by mutations of the PROP1 geneSemantic proximity Read ↗

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