ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 9 Issue : 1 Year : 2024
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2017; 9(1): 52-57 | DOI: 10.4274/jcrpe.3556

Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

Xueying Su1, Ruizhu Lin1, Yonglan Huang1, Huiying Sheng1, Xiaofei Li2, Tzer Hwu Ting3, Li Liu1, Xiuzhen Li1
1Guangzhou Women And Children’S Medical Center, Department Of Genetics And Endocrinology, Guangzhou, China
2Guangzhou Women And Children’S Medical Center, Division Of Medical Imaging, Guangzhou, China
3Univeristy Putra Malaysia, Department Of Pediatrics, Selangor, Malaysia

Objective: To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations.
Methods: Data on clinical symptoms, results of laboratory analyses, and previous treatments in three Chinese patients were collected by a retrospective review of medical records. All coding regions and adjacent exon–intron junction regions of AGPAT2 and BSCL2 genes were amplified by polymerase chain reaction and sequenced.
Results: Generalized lipodystrophy, acanthosis nigricans, muscular hypertrophy, severe hypertriglyceridemia, and hepatomegaly were features in all three patients. Patient 1 developed diabetes mellitus at the early age of 2 months and he was the youngest CGL patient reported with overt diabetes. Patient 2 was found to have cardiomyopathy when she was aged 6 months. All of the patients were found to have mutations in the BSCL2 gene, but none of these was a novel mutation. We did not find any AGPAT2 mutation in our patients.
Conclusion: All of our patients exhibited characteristic features of CGL due to mutations in the BSCL2 gene.

Keywords: Lipodystrophy, hypertriglyceridemia, diabetes, cardiomyopathy

Xueying Su, Ruizhu Lin, Yonglan Huang, Huiying Sheng, Xiaofei Li, Tzer Hwu Ting, Li Liu, Xiuzhen Li. Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy. J Clin Res Pediatr Endocrinol. 2017; 9(1): 52-57
Manuscript Language: English
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