Endocrine Abstracts

Berardinelli-Seip congenital lipoatrophy type 1 (BSCL1) is a rare autosomal recessive disease caused by mutations in the AGPAT2 gene. This syndrome is characterized by near total absence of adipose tissue since birth, associated with the progressive development of metabolic complications. The AGPAT2 gene encodes for 1-acylglycerol-3phosphate-O-acyltransferase highly expressed in white adipocytes that catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a...

Introduction: Acquired generalized lipodystrophies (AGL) are rare syndromes characterized by complete loss of subcutaneous adipose tissue and very low serum leptin levels. AGL are complicated by severe insulin resistance, diabetes mellitus, dyslipidemia and fatty liver. In most patients evidence exists of an autoimmune etiology.Case report: We herein describe the case of a Caucasian woman who was diagnosed with lipodistrophy at 5 years of age, when she b...

The predominant subtype of familial partial lipodystrophy (FPLD) is a rare autosomal dominant disease occurring in Arginine 482 codon of LMNA gene (FPLD subtype 2, also known as Dunnigan-type lipodystrophy). FPLD may also occur in patients harboring mutations in different exons of LMNA. We herein describe two unrelated patients referred to our Center for the suspicion of partial lipodystrophy and carrying two novel heterozygous LMNA variants. The fir...

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, righ...

Objective: Treatment with metreleptin ameliorates hepatic steatosis in patients with lipodystrophy. The anti-steatotic effect of metreleptin is partially independent of its anorexic action, which suggests a direct effect of metreleptin on hepatic lipid metabolism. However, this mechanism is unknown. Based on previous findings in rodents, we hypothesized that metreleptin reduces hepatic lipid content by stimulating very-low density lipoprotein triglyceride (VLDL1-TG) secretion,...