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Article

An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

The Journal of clinical endocrinology and metabolism - 1 May 2012

Turan Serap, Hughes Claire, Atay Zeynep, Guran Tulay, Haliloglu Belma, Clark Adrian J L, Bereket Abdullah, Metherell Louise A

Abstract excerpt

CONTEXT: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated cortisol deficiency. Mutations in the gene encoding the ACTH receptor (MC2R) account for 25% of cases. One significant feature is generalized skin hyperpigmentation, which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (MC1R). OBJECTIVE: The aim of the study was to...

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Identifiers

PMID: 22337906
DOI: 10.1210/jc.2011-2414
PMCID: PMC3396854

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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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