Searchable abstracts of presentations at key conferences in endocrinology

ea0086p203 | Metabolism, Obesity and Diabetes | SFEBES2022

Monitoring obesity-induced hyperglycaemia and insulin sensitivity in obese murine pregnancy

Morris Jessica , Kennard Matilda , Farrel-Dillon Keith , Taylor Paul , Bowe James , Gnudi Luigi , Nandi Manasi , Chapple Sarah

During pregnancy progressive maternal insulin resistance occurs which is normal, ‘sparing’ glucose that can be transported across the placenta to be used by the fetus. In gestational diabetes mellitus (GDM) maternal glucose dysregulation is exacerbated, characterised by hyperglycaemia and associated with long-term adverse outcomes in mother and child, such as increased risk of diabetes and/or cardiovascular disease in later-life. Continuous glucose monitoring (CGM) i...

ea0044p8 | Adrenal and Steroids | SFEBES2016

Full characterisation of adrenal steroidogenesis by liquid-chromatography–mass spectrometry (LC–MS/MS) in metyrapone and/or ketoconazole-treated pituitary/adrenal Cushing’s

Taylor David R , Leong Christine H M , Bhatt Aagna E , Ghataore Lea , Aylwin Simon , Whitelaw Ben , Vincent Royce P

Introduction: Pituitary and adrenal Cushing’s may be managed by pharmacological-inhibition of adrenal steroidogenesis, using metyrapone and/or ketoconazole. Assessment of biochemical control is challenging owing to cross-reactivity in immunoassays (e.g. cortisol and 11-deoxycortisol) leading to over/under-treatment. Off-target effects can also result, e.g. hyperandrogenism/mineralocorticoid hypertension (increased 11-deoxycorticosterone/DOC). LC-MS/MS analysis is free fro...

ea0044p40 | Adrenal and Steroids | SFEBES2016

Steroid metabolomics for diagnosis of inborn steroidogenic disorders – bridging the gap between clinician and scientist through computational approaches

Baranowski Elizabeth , Bunte Kerstin , Shackleton Cedric , Taylor Angela , Hughes Beverley , Biehl Michael , Tino Peter , Guran Tulay , Arlt Wiebke

Background: The urinary steroid metabolome is considered the fingerprint of adrenal gland function. Novel methods using mass spectrometry profiling have seen the advent of a new era for metabolomics with powerful implications for both diagnostics and discovery. Its interpretation is difficult and performed by few specialists with the expertise to do so. This makes it a relatively inaccessible tool for the majority of Clinical Endocrinologists.Objective: ...

ea0044p245 | Thyroid | SFEBES2016

Thyroid autoimmunity as a biomarker of breast cancer outcome: large-scale study using data from the Taxotere as Adjuvant Chemotherapy Trial (TACT: CRUK01/001)

Muller Ilaria , Kilburn Lucy , Taylor Peter , Barrett-Lee Peter , Bliss Judith , Paul Ellis , Marian Ludgate , Dayan Colin

Background: An association between breast cancer (BC) and thyroid autoimmunity has been frequently observed, and several small-scale studies correlated the presence of autoantibodies to thyroid peroxidase (TPOAb) with an improved BC outcome. We aimed to clarify in a large cohort of patients whether circulating TPOAb are prognostic for BC recurrence.Materials and methods: Available plasma samples for patients with node-positive or high-risk node-negative ...

ea0041gp15 | Adrenal (1) | ECE2016

Reduced temperature and the chemical chaperone 4-phenylbutyrate enhance stability of CYP21A2 mutations

Chen Yiqing , Schaefer Kerstin , Gasteiger Maria , Taylor Angela , Arlt Wiebke , Krone Nils , Gersting Soeren W. , Reisch Nicole

Background: Mutations of 21-hydroxylase (CYP21A2) cause congenital adrenal hyperplasia. Its severe (classic) form constitutes a life-threatening disease. Patients suffer a significant disease burden due to co-morbidities that are often treatment-related. The current therapeutic situation is unsatisfying and demands novel treatment approaches. In silico modelling suggests protein misfolding and intracellular retention to play a significant role in the pathogenesis of C...

ea0041ep728 | Neuroendocrinology | ECE2016

Women with idiopathic intracranial hypertension have a distinct andro-metabolic signature compared to polycystic ovary syndrome and simple obesity

Kempegowda Punith , O'Reilly Michael , Hornby Catherine , Botfield Hannah , Taylor Angela , Hughes Beverley , Tomlinson Jeremy , Arlt Wiebke , Sinclair Alexandra

Context: Idiopathic intracranial hypertension (IIH) is characterised by elevated intracranial pressure and occurs predominantly in obese premenopausal women. Signs and symptoms of polycystic ovary syndrome (PCOS) often coexist in IIH. Here we compared the androgenic and metabolic phenotypes in IIH, PCOS and simple obesity.Patients and Methods: We studied 25 patients with IIH (mean age 34.4±9.2 years; mean BMI 37.8±5.2 kg/m2), in comp...

ea0059p053 | Bone and calcium | SFEBES2018

Identification of a frame-shifting c.348dupC GNAS mutation in a family with Pseudohypoparathyroidism type 1a (PHP1a) by Whole Genome Sequencing

Warner Bronwen E , Pagnamenta Alistair T , Stevenson Mark , Lines Kate E , Ahmed S Faisal , Taylor Jenny C , Thakker Rajesh V

Pseudohypoparathyroidism (PHP) is due to parathyroid hormone (PTH) resistance that results in hypocalcaemia, hyperphosphataemia and elevated plasma PTH concentrations. Some PHP patients also have Albright’s hereditary dystrophy (AHO), which is characterised by short stature, round faces, dental hypoplasia, brachydactyly, subcutaneous ossifications and reduced mental acuity. The 3 major types of PHP referred to as PHP type 1a (PHP1a), PHP1b and pseudopseudohypoparathyroidi...

ea0038oc1.4 | Early Career Oral Communications | SFEBES2015

Adipose tissue-specific androgen generation fuels an adverse metabolic phenotype in patients with polycystic ovary syndrome

O'Reilly Michael , Kempegowda Punith , Gathercole Laura , Bujalska Iwona , Taylor Angela , Hughes Beverley , Dunn Warwick , Semple Robert , Tomlinson Jeremy , Arlt Wiebke

Insulin resistance and androgen excess are the cardinal features of polycystic ovary syndrome (PCOS). Severity of hyperandrogenism and metabolic dysfunction in PCOS are closely correlated, but underlying mechanisms remain poorly understood. Aldoketoreductase type 1C3 (AKR1C3) is a key source of adipose androgen generation, activating androstenedione to testosterone (T). We postulated that AKR1C3 plays a critical role linking androgen metabolism and metabolic ...

ea0038p193 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2015

Women with idiopathic intracranial hypertension have a distinct andro-metabolic signature compared to polycystic ovary syndrome and simple obesity

O'Reilly Michael , Kempegowda Punith , Botfield Hannah , Ali Fizzah , Taylor Angela , Hughes Beverley , Tomlinson Jeremy , Arlt Wiebke , Sinclair Alex

Context: Idiopathic intracranial hypertension (IIH) is characterised by elevated intracranial pressure and occurs predominantly in obese premenopausal women. Signs and symptoms of polycystic ovary syndrome (PCOS) often coexist in IIH. Here we compared the androgenic and metabolic phenotypes in IIH, PCOS and simple obesity.Patients and methods: We studied 25 patients with IIH (mean age 34.4±9.2 years; mean BMI 37.8±5.2 kg/m2), in comp...

ea0038p356 | Reproduction | SFEBES2015

Visceral fat drives 5α-reductase activity independent of BMI in women with polycystic ovarian syndrome

Kempegowda Punith , O'Reilly Michael W , Crabtree Nicola J , Taylor Angela E , Hughes Beverly A , Tomlinson Jeremy W , Arlt Wiebke

Context: Androgen excess, obesity and hyperinsulinaemia are the cardinal features of polycystic ovarian syndrome (PCOS). While several studies have addressed the relationship between androgen excess and hyperinsulinaemia, the link between androgen excess and fat distribution remains largely undefined. Recent work has highlighted the importance of adipose tissue as an organ of androgen activation. Here, we evaluated the relationship between visceral fat and androgen excess in w...