Frontiers in Endocrinology (Feb 2023)

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

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

DOI
https://doi.org/10.3389/fendo.2023.1113234
Journal volume & issue
Vol. 14

Abstract

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BackgroundMelanocortin-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 presentationWe 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, hyperbilirubinemia, and tall stature. These individuals showed novel clinical features, including congenital heart defects, not been found in other FGD1 patients.ConclusionsWe reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in MC2R.Our report may expand the genetic and clinical spectrum of FGD1.

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