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

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

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1113234

DOI=10.3389/fendo.2023.1113234

ISSN=1664-2392

ABSTRACT=Background: Melanocortin-2 receptor (MC2R), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). Mutations in MC2R are associated with family glucocorticoid deficiency 1 (FGD1). 
Case presentation: We first report a Chinese family with two affected siblings with a homozygotic mutation 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. 
Conclusions: We report a Chinese family with affected siblings having a homozygotic mutation of c.712C>T/p.H238Y in MC2R.Our report may expand the genetic and clinical spectrum of FGD1.