hrp0098p2-77 | Diabetes and Insulin | ESPE2024

Congenital Generalized Lipodystrophy in Down Syndrome patient

Soledad Reinoso Andrea , Ricci Jaime , Pietropaolo Guadalupe , Balbi Viviana , Morin Analia

Introduction: Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes and dyslipidemia. Congenital Generalized Lipodystrophy is a rare autosomal recessive genetic desease that presents early, at birth or just after. The estimated prevalence ranges from 1 in a millon to 1 in 10 millon individual...