Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep224 | Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Treatment transition in a recently described HNF4a-MODY variant: Better late than never?

Barbosa Mariana , Lemos Manuel C. , Fernandes Vera

IntroductionMaturity Onset Diabetes of the Young (MODY) type 1 is characterized by mutations in hepatocyte nuclear factor 4a (HNF4a) gene, leading to progressive dysfunction of pancreatic beta-cells with optimal response to sulphonylurea treatment. However, most of these patients are initially misdiagnosed as having type 1 diabetes and inappropriately treated with insulin. Data on adequate transferring from insulin to sulphonylureas following gen...

ea0059p057 | Clinical biochemistry | SFEBES2018

Genetic susceptibility to type 1 diabetes: genomic variants in the vitamin D pathway

Almeida Joana , Rodrigues Dircea , Carrilho Franscisco , Guimaraes Joana , Lemos Manuel C

Type 1 diabetes mellitus (T1D) is an autoimmune disease that results from the destruction of insulin producing β cells, in genetic susceptible individuals. Vitamin D (Vit D) is mostly known for its role in bone and calcium metabolism, however it is also involved in the modulation of the immune response. Serum levels of vitamin D partly depend on diet and sunlight exposure. However, genetic factors are also involved. Patients with T1D have been reported to have a higher pr...