Rubio-Cabezas et al. (2009) reported a 19-year-old Ecuadorian girl who presented with partial lipodystrophy and insulin-resistant diabetes mellitus. She had muscular lower limbs and acanthosis nigricans, but no signs of virilization. Menarche occurred at age 12 years and ... Rubio-Cabezas et al. (2009) reported a 19-year-old Ecuadorian girl who presented with partial lipodystrophy and insulin-resistant diabetes mellitus. She had muscular lower limbs and acanthosis nigricans, but no signs of virilization. Menarche occurred at age 12 years and menses later became irregular. Lipid profile was normal at presentation, but worsened over 18 months to severe dyslipidemia with hypertriglyceridemia and secondary pancreatitis. Plasma leptin and adiponectin were decreased. MRI showed virtual absence of lower limb and femorogluteal fat pads with preservation of visceral, neck, and axillary fat. She also had hepatomegaly and hepatic steatosis. Adipose tissue biopsy showed many adipocytes with multiple small lipid droplets rather than the normal single large droplet, and the number of lipid droplets per cell varied inversely with cell size. Mitochondrial density was increased, as was the resting metabolic rate.
In a 19-year-old Ecuadorian girl with partial lipodystrophy and insulin-resistant diabetes mellitus, Rubio-Cabezas et al. (2009) identified a homozygous truncating mutation in the CIDEC gene (E186X; 612120.0001). The observations suggested that CIDEC is required for unilocular lipid droplet ... In a 19-year-old Ecuadorian girl with partial lipodystrophy and insulin-resistant diabetes mellitus, Rubio-Cabezas et al. (2009) identified a homozygous truncating mutation in the CIDEC gene (E186X; 612120.0001). The observations suggested that CIDEC is required for unilocular lipid droplet formation and optimal energy storage in human fat. CIDEC mutations were not found in 168 additional patients with unexplained lipodystrophy, suggesting that it is a rare cause of partial lipodystrophy.