Searchable abstracts of presentations at key conferences in endocrinology

ea0044p7 | Adrenal and Steroids | SFEBES2016

Screening for Cushings syndrome: A comparison of available tests

McKeever Edward , McCance David R , Hunter Steven J , Courtney Hamish , Mullan Karen R , Graham Una M

Nocturnal salivary cortisol (NSC), urinary free cortisol (UFC) and overnight dexamethasone suppression testing (ODS) are recommended screening tests for Cushing’s syndrome (CS). Individual centers differ in their screening approach; UFC being the test of choice in Northern Ireland with ODS in patients with adrenal incidentalomas. NSC, which measures free cortisol, is not routinely used. The aims of this study were to 1. Evaluate the utility of NSC in the diagnosis of CS; ...

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...

ea0031oc4.7 | Obesity, metabolism and bone | SFEBES2013

Familial hypocalciuric hypercalcaemia type 3 is caused by mutations in adaptor protein 2 sigma 1

Nesbit M Andrew , Hannan Fadil M , Howles Sarah A , Reed Anita A C , Cranston Treena , Thakker Clare E , Gregory Lorna , Rimmer Andrew J. , Rust Nigel , Graham Una , Morrison Patrick J , Hunter Steven J , Whyte Michael P , Thakker Rajesh V

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by lifelong elevation of serum calcium concentrations with inappropriately low urinary calcium excretion. Three types referred to as FHH1, FHH2 and FHH3 and located on chromosomes 3q21.1, 19p and 19q13.3, respectively, have been reported. FHH1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), accounts for >65% of FHH patients. To identify the gen...