Congenital generalized lipodystrophic diabetes with identical genotype but divergent phenotypes in a family
10.3760/cma.j.cn311282-20230921-00087
- VernacularTitle:基因型相同而表现型不同的先天性全身脂肪萎缩性糖尿病一家系
- Author:
Qianying OU
1
;
Leweihua LIN
1
;
Tuanyu FANG
1
;
Huibiao QUAN
1
Author Information
1. 海南省人民医院，海南医科大学附属海南医院内分泌科，海口 570311
- Publication Type:Journal Article
- Keywords:
Lipodystrophic diabetes;
Insulin resistance;
BSCL2 gene
- From:
Chinese Journal of Endocrinology and Metabolism
2025;41(4):322-327
- CountryChina
- Language:Chinese
-
Abstract:
Congenital generalized lipodystrophic diabetes(CGLD) is a rare form of diabetes caused by the genetic defects affecting insulin action. This article describes two cases of CGLD within a family. The patients, siblings, exhibited systemic fat atrophy, severe hypertriglyceridemia, insulin resistance and hepatomegaly. Genetic analysis revealed a shared homozygous nonsense mutations in the BSCL2 gene c. 757G>T: p.E253*. Case 1(elder brother) presented with more severe hypertriglyceridemia, pronounced microvascular complications of diabetes, and abnormalities in bone metabolism. In contrast, Case 2(younger brother) demonstrated lower body fat content and reduced limb muscle strength. Despite sharing the same pathogenic mutation, the siblings displayed notable differences in clinical presentation, underscoring the phenotypic heterogeneity of CGLD. These findings highlight the importance of recognizing variable clinical manifestations in CGLD. Endocrinologists should consider this heterogeneity to ensure accurate diagnosis and tailored treatment strategies for affected individuals.
