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Article

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.

The Journal of clinical endocrinology and metabolism - 1 Oct 2004

Böttner Antje, Keller Eberhard, Kratzsch Jürgen, Stobbe Heike, Weigel Johannes F W, Keller Alexandra, Hirsch Wolfgang, Kiess Wieland, Blum Werner F, Pfäffle Roland W

Abstract excerpt

Mutations in the PROP1 gene are the most frequent genetic defects in patients with combined pituitary hormone insufficiency. However, controversy exists about the timing and extent of pituitary insufficiency, and it remains unclear whether adrenal failure is a typical feature of this condition. We performed a retrospective longitudinal analysis of nine patients with PROP1 mutations who were under medical...

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Source

Identifiers

PMID: 15472232
DOI: 10.1210/jc.2004-0661

Genes

PROP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.PMID 15472232Read ↗

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The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.Semantic proximity Read ↗

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Impaired Adrenocorticotropin-Adrenal Axis in Combined Pituitary Hormone Deficiency Caused by a Two-Base Pair Deletion (301–302delAG) in the Prophet of Pit-1 Gene<sup>1</sup>Semantic proximity Read ↗

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.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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