Searchable abstracts of presentations at key conferences in endocrinology

ea0081p611 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Influence of dopamine receptor d2 and dopamine transporter polymorphisms in angiopathy in patients with type 2 diabetes mellitus

Neves Marta , Santos Ana Carolina , Ferreira Joana , Raposo Joao F. , Valente Ana , Bicho Manuel

Introduction and Aim: Dopamine receptor D2 (DRD2) polymorphism (rs1800497) appears to be associated with increased susceptibility to the development of type 2 diabetes mellitus (T2DM). The dopamine transporter (DAT) determines dopamine signalling, responsible for the reuptake of its active form from the synapse. Polymorphism in the DAT gene (rs2836317) can increase dopamine reuptake in the synaptic cleft. However, its association with T2DM is still controversial.<p class="...

ea0081p550 | Calcium and Bone | ECE2022

Biochemical parameters in metabolic bone disease of obese patients

Binda Pereira Raquel , Santos Ana Carolina , Ferreira Joana , Mascarenhas Mario Rui , De Quinhones Levy Pilar , Barbosa Paula , Bicho Manuel

Introduction: Obesity is a pathological condition characterized by a low-grade systemic inflammatory state that predisposes to the onset of some diseases, such as hypertension, diabetes, and hyperlipidemia. Also, obesity can impact bone metabolism, but its effects are controversial.Aims: This observational study aimed to evaluate and correlate the bone mass with the lipidic profile, adipocytokines, glucose metabolism, hepatic function and purine metaboli...

ea0045p70 | Pituitary and growth | BSPED2016

A mutation in eukaryotic translation initiation factor 2 subunit 3 (EIF2S3) associated with a novel syndrome of X-linked hypopituitarism and glucose dysregulation

Gregory Louise , Ferreira Carolina , Williams Hywel , Rahman Sofia , Alatzoglou Kyriaki , Kapoor Ritika , Jones Peter , Hussain Khalid , Gaston-Massuet Carles , Qasim Waseem , Dattani Mehul

Background: EIF2S3 (NM_001415; Xp22.11) mutations have previously been reported in a single pedigree with microcephaly and developmental delay. The gene encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 is a heterotrimeric GTP-binding protein, which initiates protein synthesis. It forms a ternary complex, mediating recruitment of initiator methionyl-tRNA to the 40S ribosomal subunit to scan the mRNA...