Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy
Journal Title: Journal of Clinical Research in Pediatric Endocrinology - Year 2017, Vol 9, Issue 1
Abstract
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.
Authors and Affiliations
Xueying Su, Ruizhu Lin, Yonglan Huang, Huiying Sheng, Xiaofei Li, Tzer Hwu Ting, Li Liu, Xiuzhen Li
Keywords
Related Articles
- EP ID EP237942
- DOI 10.4274/jcrpe.3556
- Views 159
- Downloads 0
Effectiveness of Continuous Subcutaneous Insulin Infusion Pump Therapy During Five Years of Treatment on Metabolic Control in Children and Adolescents with Type 1 Diabetes Mellitus
Objective: To compare continuous subcutaneous insulin infusion (CSII) therapy with multiple daily insulin (MDI) therapy on metabolic control in children and adolescents with type 1 diabetes mellitus (T1DM) over the long...
Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion
We report a six-year-old boy who presented with short stature, microcephaly, dysmorphic features, and developmental delay and who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin-like growth...
Wrist Circumference and Frame Size Percentiles in 6-17-Year-Old Turkish Children and Adolescents in Kayseri
Objective: The aim of the current study was to provide wrist circumference (WrC) and body frame size (height/WrC) percentile values in Turkish children and adolescents aged 6-17 years. Methods: In this cross-sectional s...
Association Between Endocrine Diseases and Serous Otitis Media in Children
Objective: Otitis media with effusion (OME) is a condition in which fluid is retained in the middle ear cavity. The association between endocrine disorders and OME has not yet been determined. This study aimed to investi...
Letter to the Editor Regarding “Assessment of Retinal Nerve Fiber Layer Thickness in Non-Diabetic Obese Children and Adolescents”
.