Endocrine Abstracts

Objective: To evaluate the real-world experience of patients with generalized (GL) and partial (PL) lipodystrophy initiating treatment with metreleptin as part of an early access program (EAP).Methods: A retrospective data collection was conducted from four countries for patients enrolled in the EAP. A descriptive analysis was performed on selected patient characteristics, baseline organ impairments and complications, and response to metreleptin therapy,...

The study of humans carrying dominant negative mutations in PPAR gamma has contributed significantly to our understanding of its role in human physiology. To date, comparable studies of PPAR alpha have not been reported. Using a pooled approach, we undertook exon sequencing of PPARA in 11,848 adult participants of the Fenland study, a population-based cohort study with detailed metabolic phenotyping. Twenty-nine PPARA missense variants were detected (allelic ...

Introduction: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterised by a selective lack of subcutaneous fat that is associated with insulin resistance and diabetes. FPL has been reported to be caused by mutations in the peroxisome proliferator activator receptor-γ (PPARG) gene, which encodes a key transcription factor that regulates adipocyte differentiation and insulin sensitivity.Material and methods: The objective of this ...