Display Settings:

Format

Send to:

Choose Destination
J Clin Res Pediatr Endocrinol. 2010;2(4):176-9. doi: 10.4274/jcrpe.v2i4.176. Epub 2010 Nov 9.

Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old Yemeni girl.

Author information

  • 1VCUHS, Pediatrics, Richmond, VA, USA. tsroth2117@gmail.com

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.

KEYWORDS:

Berardinelli‚ąíSeip congenital lipodystrophy type 2; Congenital generalized lipodystrophy; insulin resistance; leptin; monogenic diabetes

PMID:
21274320
[PubMed - indexed for MEDLINE]
PMCID:
PMC3005685
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for PubMed Central
    Loading ...
    Write to the Help Desk