Searchable abstracts of presentations at key conferences in endocrinology

ea0086p97 | Neuroendocrinology and Pituitary | SFEBES2022

Aberrant cyclic GMP-AMP synthase stimulator of interferon genes signalling in an AIP mutant cell line

Benjamin Loughrey Paul , Suleyman Oniz , Begalli Federica , Craig Stephanie G , Hunter Steven J , McArt Darragh G , James Jacqueline A , Haworth Oliver , Barry Sayka , Korbonits Marta

Background: The cyclic GMP-AMP synthase stimulator of interferon genes (cGAS-STING) signalling pathway is an element of the innate immune response and is activated by the presence of DNA in the cytosol. Triggering of this immune response may occur in the setting of infection or neoplasia. Activation of this pathway results in phosphorylation of interferon regulatory factor 3 and downstream transcription of cytokines such as interferon β and interleukin-6. Polyinosinic:pol...

ea0044p17 | Adrenal and Steroids | SFEBES2016

The effect of time of day and utility of 30 and 60 min values in 250 μg ACTH stimulation test

Munro Vicki , Elnenaei Manal , Doucette Steve , Kaiser Stephanie , Ali Imran Syed

Background: Despite the widespread use of the 250-μg Cosyntropin test (ACTH test) for the diagnosis of adrenal insufficiency (AI), the effect of timing of the test on 30- vs. 60-min serum cortisol values remains unclear. Also, there is limited evidence comparing the value of performing both 30- and 60-min cortisol levels.Methods: We conducted a retrospective cohort study of all ACTH tests conducted at the Halifax Neuropituitary Program, Nova Scotia,...

ea0041ep541 | Diabetes therapy | ECE2016

PPARG2 Pro12Ala, TNFα G(308)A and G(238)A, LIPC C(-514)T, ACE I/D, SLCO1B1 Val174Ala polymorphism as predictors of lipid-lowering response to statin therapy in patients with T2DM

Lebedeva Nadezhda Ol , K Vikulova Olga , Nikitin Alexei G , Shamkhalova Minara Sh , Shestakova Marina V

Aim: To evaluate the effect of PPARG2 Pro12Ala, TNFα G(308)A and G(238)A, LIPC C(-514)T, ACE I/D, SLCO1B1 Val174Ala polymorphism on the response to statins therapy in patients with type 2 diabetes mellitus (T2DM).Methods: We consecutively recruited patients with type 2 DM requiring lipid-lowering therapy according to current guidelines. Patients were started on either atorvastatin 10 or 20 mg. After 12 month of st...

ea0029p902 | Female Reproduction | ICEECE2012

The effects of the therapy with ethinylestradiol 30 μg-drospirenone+metformin on endothelial dysfunction in the polycystic ovary syndrome

Ilie I. , Ilie R. , Marian I. , Mocan T. , Hazi G. , Duncea I. , Georgescu C.

Introduction: Recent data indicate that women affected by the polycystic ovary syndrome (PCOS) are at a greater risk for cardiovascular disease (CVD). The objective of this study was to evaluate the effect of the association ethinylestradiol 30 μg–drospirenone 3 mg (DRP/EE30 μg) plus metformin and weight loss on surrogate markers of CVD in PCOS.Methods: Twenty-five young women with PCOS (mean age 22.76±0.83 years, body mass index (BMI...

ea0029oc4.4 | Pituitary Basic | ICEECE2012

Identification of coupling specificity between somatostatin receptor 5 (SST5) and G proteins by a bioluminescence resonance energy transfer (BRET) technique: the role of GoA protein

Peverelli E. , Mantovani G. , Vitali E. , Busnelli M. , Chini B. , Lania A. , Beck-Peccoz P. , Spada A.

In this study we employed a novel bioluminescence resonance energy transfer (BRET) biosensor to study the coupling specificity of somatostatin receptor 5 (SST5) and its naturally occurring mutant R240W in living cells. Our previous data demonstrated that SST5 carrying the R240W mutation as well as other mutations in the third intracellular loop maintained the ability to inhibit intracellular cAMP levels similarly to the wild-type but failed to mediate the inhibition of intrace...

ea0021p55 | Clinical practice/governance and case reports | SFEBES2009

A case of pseudo-carcinoid

Stiles Craig , Sumanatilleke Manilka , Drake Will

A 31-year-old Caucasian male with chronic fatigue syndrome and additional symptoms of abdominal pain and diarrhoea, was referred by his neuro-gastroenterologist for investigation of possible carcinoid tumour after finding a raised 24 h urinary 5HIAA level – 220 μmol/24 h (normal range <50 μmol/24 h).Full blood count, urea and electrolytes, liver function tests, plasma and urinary catecholamines were all within normal range.<p class...

ea0086p237 | Neuroendocrinology and Pituitary | SFEBES2022

Acetate ameliorates depressive-like behaviour in a rat model of PCOS through suppression of HDAC2 expression and DNA methylation

Olaniyi Kehinde , Areloegbe Stephanie

Background: Polycystic Ovarian Syndrome (PCOS) is the most common endocrine disorder among women of reproductive age. PCOS has been demonstrated to induce depressive-like behavior. Epigenetic alterations such as histone deacetylation (HDAC) and DNA methylation have been suggested in major depression. However, their effects with respect to neuroinflammation are not clear. This study, therefore, investigated the pathogenic role of epigenetic modification in PCOS-associated depre...

ea0097019 | Section | BES2023

In search of the source; a challenging diagnostic work-up of ACTH dependent Cyclic Cushing syndrome

Stephanie Buyse , Bruno Lapauw

Introduction: Cyclic Cushing Syndrome (CCS) is a rare entity of Cushing’s syndrome (CS), characterized by a cyclic excretion of cortisol, resulting in periods of hypercortisolism intertwining with periods of hypo- or normocortisolism. Diagnosis of CS as such can be challenging, moreover the cyclicity of CCS may necessitate repeated testing. (1)Case: A 68 year old woman consulted because of periodically appearing ede...

ea0050p046 | Bone and Calcium | SFEBES2017

Systematic in silico evaluation of rare genetic variants in G-protein alpha 11 (Gα11)

Gluck Anna , Gorvin Caroline M , Thakker Rajesh V

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that maintains systemic calcium homeostasis by detecting alterations in extracellular calcium, which it transduces into signalling changes, mainly via the Gq/11 pathway, leading to a decrease in PTH secretion. The importance of CaSR is highlighted by studies of patients that harbour germline CaSR mutations, which lead to a gain of receptor function in autosomal dominant...

ea0050p046 | Bone and Calcium | SFEBES2017

Systematic in silico evaluation of rare genetic variants in G-protein alpha 11 (Gα11)

Gluck Anna , Gorvin Caroline M , Thakker Rajesh V

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that maintains systemic calcium homeostasis by detecting alterations in extracellular calcium, which it transduces into signalling changes, mainly via the Gq/11 pathway, leading to a decrease in PTH secretion. The importance of CaSR is highlighted by studies of patients that harbour germline CaSR mutations, which lead to a gain of receptor function in autosomal dominant...