一个中国家族性糖皮质激素缺乏症 1 型中发现的 基因罕见纯合变异：病例报告。
A rare homozygous variant of gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report.
机构信息
Department of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.
Department of Children's Health Care, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
出版信息
Front Endocrinol (Lausanne). 2023 Feb 24;14:1113234. doi: 10.3389/fendo.2023.1113234. eCollection 2023.
BACKGROUND
Melanocortin-2 receptor (), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in 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 , 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 reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in .Our report may expand the genetic and clinical spectrum of FGD1.
背景
黑皮质素-2 受体（）是 G 蛋白偶联受体家族的成员，可被促肾上腺皮质激素（ACTH）选择性激活。在 中存在的变异与家族性糖皮质激素缺乏 1 型（FGD1）相关。
病例介绍
我们首次报道了一个中国家系，其中有 2 个受影响的同胞携带 中的 c.712C>T/p.H238Y 纯合变异，表现为皮肤色素沉着、高胆红素血症和身材高大。这些个体表现出了新的临床特征，包括先天性心脏缺陷，这些在其他 FGD1 患者中并未发现。
结论
我们报道了一个中国家系，其受影响的同胞携带 中的 c.712C>T/p.H238Y 纯合变异。我们的报告可能扩展了 FGD1 的遗传和临床谱。
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