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Article

Genetic causes of combined pituitary hormone deficiencies in humans.

Annales d'endocrinologie - 1 Apr 2012

Castinetti Frédéric, Reynaud Rachel, Saveanu Alexandru, Barlier Anne, Brue Thierry

Abstract excerpt

Congenital hypopituitarism is a rare disease, usually induced by mutations of genes coding for transcription factors involved in pituitary development. PROP1 mutations represent the first cause of identified congenital hypopituitarism. Current techniques only identify 10-20% of congenital hypopituitarism etiologies, suggesting that new techniques are needed to improve this ratio. This should lead to a better...

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Identifiers

PMID: 22521856
DOI: 10.1016/j.ando.2012.03.025

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.

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