Searchable abstracts of presentations at key conferences in endocrinology

ea0063p610 | Diabetes, Obesity and Metabolism 2 | ECE2019

Description of a novel AGPAT2 gene mutation (R159C) responsible for congenital generalized lipoatrophy type 1 (Berardinelli-Seip Syndrome)

Magno Silvia , Ceccarini Giovanni , Pelosini Caterina , Ferrari Federica , Scabia Gaia , Maffei Margherita , Vitti Paolo , Santini Ferruccio

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...

ea0049ep397 | Clinical case reports - Thyroid/Others | ECE2017

Acquired generalized lipodystrophy associated with latent autoimmune diabetes mellitus in adults: a new metabolic phenotype

Ferrari Federica , Maranghi Marianna , Ceccarini Giovanni , Magno Silvia , Pelosini Caterina , Maffei Margherita , Vitti Paolo , Arca Marcello , Santini Feruccio

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...

ea0063gp39 | Metabolic Syndrome and Hypoglycaemia | ECE2019

Generalized lipodystrophy associated with delayed neuro-somatic development and multiple dysmorphisms in a neonate with a compound heterozygous missense mutation in the SYNE2 gene

Pelosini Caterina , Ceccarini Giovanni , Aretini Paolo , Lorenzoni Francesca , Magno Silvia , Caligo Maria Adelaide , Sessa Maria Rita , Ferrari Federica , Ghirri Paolo , Santini Ferruccio

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...

ea0081p352 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

The effects of an acute metreleptin injection on hepatic lipid metabolism in patients with lipodystrophy

Beghini Marianna , Metz Matthaeus , Wolf Peter , Bastian Magdalena , Hackl Martina , Baumgartner-Parzer Sabina , Kautzky-Willer Alexandra , Trauner Michael , Marculescu Rodrig , Krebs Michael , Harreiter Jurgen , Wabitsch Martin , von Schnurbein Julia , Brandt-Huenemann Stephanie , Stumvoll Michael , Miehle Konstanze , Santini Ferruccio , Ceccarini Giovanni , Magno Silvia , Pelosini Caterina , Krssak Martin , Pfleger Lorenz , Stangl Herbert , Furnsinn Clemens , Scherer Thomas

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,...