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Article

A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report.

Frontiers in endocrinology - 1 Jan 2023

Liu ShuPing, Zeng Ting, Luo Cheng, Peng DanXia, Xu Xuan, Liu Qin, Wu Qiong, Lu Qin, Huang FuRong

Abstract excerpt

Background: Melanocortin-2 receptor (MC2R), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in MC2R are associated with family glucocorticoid deficiency 1 (FGD1). Case presentation: We first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C>T/p.H238Y in MC2R, presenting with skin hyperpigmentation,...

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Identifiers

PMID: 36909322
DOI: 10.3389/fendo.2023.1113234
PMCID: PMC10003339

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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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