ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 15 Issue: 4 Year: 2023
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Monogenic Diabetes Secondary to Congenital Lipodystrophy in a 14-year-old Yemeni Girl [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2010; 2(4): 176-179 | DOI: 10.4274/jcrpe.v2i4.176

Monogenic Diabetes Secondary to Congenital Lipodystrophy in a 14-year-old Yemeni Girl

Todd Roth1, Sri Nair1, Anıl Kumar1
Vcuhs, Pediatrics, Richmond Va, Usa

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 = 3.5ng/ml, insulin = 6.8 uIU/ml, triglyceride =385mg/dl, and serum leptin <0.5ng/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: Congenital generalized lipodystrophy,Berardinelli-Seip congenital lipodystrophy type 2,insulin resistance,monogenic diabetes,leptin

Todd Roth, Sri Nair, Anıl Kumar. Monogenic Diabetes Secondary to Congenital Lipodystrophy in a 14-year-old Yemeni Girl. J Clin Res Pediatr Endocrinol. 2010; 2(4): 176-179
Manuscript Language: English
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