Endocrine Abstracts

Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare genetic disease associated with loss of subcutaneous adipose tissue and metabolic involvement such as diabetes, hyperlipidemia, and hepatosteatosis. We aimed to present a rare FPLD2 caused by an atypical Lamin A/C gene (LMNA) mutation. We report a case of an Algerian 31 year-old female with a lamin A specific pathogenic variant in exon 11, denoted LMNA (c.5454G b  A; p.R582H), present in the homozygous s...

Lipodystrophy (LD) and obesity are opposites in terms of a deficiency versus excess of adipose tissue mass, yet these conditions are accompanied by similar metabolic consequences. VAT has not been well quantified in LD. The aim of this study was to compare the metabolic profile and VAT in different kinds of LD. Six-eight adult patients (45 females) referred for LD were classified in four groups: 23 LMNA-mutated patients (LMNA), 14 non-mutated related to the LMNA-...

LMNA mutations cause a wide range of diseases involving either specific tissues in isolated fashion (cardiac and skeletal muscles, nerve, adipose tissue) or several tissues in a generalized way (premature ageing syndromes…). The cardiac disease is defined by conduction and rhythm disturbances, followed by dilated cardiomyopathy, heart failure, and sudden cardiac death. We report an unusual case of laminopathy revealed by diabetes associated with conduction disturb...

Context: Anti-programmed cell death-1 (Anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations. Acquired generalized lipodystrophy (AGL), is a rare disease, thought to be immune-mediated, characterized by loss of adipose tissue and insulin resistance-associated complications. We describe the first case of AGL induced by immune checkpoint therapy.<p class="ab...