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Article

A novel mutation of the hGR gene causing Chrousos syndrome.

European journal of clinical investigation - 1 Aug 2015

Nicolaides Nicolas C, Geer Eliza B, Vlachakis Dimitrios, Roberts Michael L, Psarra Anna-Maria G, Moutsatsou Paraskevi, Sertedaki Amalia, Kossida Sophia, Charmandari Evangelia

Abstract excerpt

BACKGROUND: Natural mutations in the human glucocorticoid receptor (hGR, NR3C1) gene cause Chrousos syndrome, a rare condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids. OBJECTIVE: To present a new case of Chrousos syndrome caused by a novel mutation in the hGR gene, and to elucidate the molecular mechanisms through which the natural mutant receptor affects...

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Identifiers

PMID: 26031419
DOI: 10.1111/eci.12470

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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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