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Article

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

The Journal of clinical endocrinology and metabolism - 1 Nov 2004

Reynaud Rachel, Chadli-Chaieb Molka, Vallette-Kasic Sophie, Barlier Anne, Sarles Jacques, Pellegrini-Bouiller Isabelle, Enjalbert Alain, Chaieb Larbi, Brue Thierry

Abstract excerpt

We report the natural history of a hypopituitarism in a large Tunisian kindred including 29 subjects from the same consanguineous family. The index case was a 9-yr-old girl with severe growth retardation due to complete GH deficiency and partial corticotroph, lactotroph, and thyrotroph deficiencies. Magnetic resonance imaging showed a hyperplastic anterior pituitary. Thirteen of the 28 relatives examined (10...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15531542
DOI: 10.1210/jc.2003-032124

Genes

PROP1

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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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