We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old Yemeni girl.
- Authors
Roth, Todd; Nair, Sri; Kumar, Anıl
- Abstract
A 14-year-old female from Yemen presented with intense abdominal pain and headache. She was born at term to distant cousins, developmentally delayed and significantly dysmorphic. Four years ago, she was diagnosed with diabetes mellitus and undiagnosed hepatic, cardiac, genetic, neurologic, endocrine, musculoskeletal, and gastrointestinal disorders. No therapy was prescribed. Admission laboratory data showed blood glucose = 391 mg/dl, hemoglobin A1c= 12.2%, C-peptide = 3.5 ng/ml, insulin = 6.8 uIU/ml, triglyceride =385 mg/dl, and serum leptin <0.5 ng/ml, (1.1-27.5). Chromosome analysis (46, XX) was normal and serology for Glutamic acid Decarboxylase (GAD), hepatitis and HIV were negative. Clinical examination and laboratory data suggested congenital generalized lipodystrophy (CGL, type BSCL-2). This case illustrates that CGL should be in the differential diagnosis for non-obese patients with diabetes and insulin resistance.
- Publication
Journal of clinical research in pediatric endocrinology, 2010, Vol 2, Issue 4, p176
- ISSN
1308-5735
- Publication type
Journal Article
- DOI
10.4274/jcrpe.v2i4.176