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=14

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