Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp126 | Endocrine Case Reports | ECE2018

Acromegaly and acromegaloidism, two rare insulin-resistance conditions in one patient: reason for GH-IGF-1 discrepancy?

Freitas Paula , Guerreiro Vanessa , Bernardes Irene , Pereira Josue , Silva Roberto Pestana , Fernandes Susana , Carvalho David

Introduction: Lipodystrophies are a group of genetic or acquired diseases characterized by abnormal adipose tissue deposition, frequently associated with insulin resistance, diabetes mellitus, dyslipidaemia, hypertension and hepatic steatosis. Congenital generalized lipodystrophy (LCG) is a well-defined syndrome with autosomal recessive heredity, prevalence <1:10million, with about 400 cases being described. Extreme shortage of subcutaneous adipose tissue, muscle hypertrop...

ea0041gp59 | Cardiovascular endocrinology | ECE2016

Familial partial lipodystrophy type 3 due to PPARgamma mutation: presentation with diabetes and severe hypertriglyceridemia

Oliveira Joana , Cunha Filipe , Rodrigues Elisabete , Menezes Joana , Saavedra Ana , Costa Maria Manuel , Magalhaes Daniela , Bettencourt-Silva Rita , Fernandes Susana , Oliveira Joao Paulo , Carvalho Davide , Freitas Paula

Introduction: Familial partial lipodystrophy (FPL) is an autosomal dominant disease characterized by selective loss of subcutaneous fat from the extremities and gluteal region, with lipohypertrophy of the face, neck and trunk. It is usually tightly linked with severe metabolic complications. FPL type 3 results from peroxisome proliferator-activated receptor gamma (PPARG) mutations.Case presentations: Fifty three-year-old woman, referred to endocrinology ...