Searchable abstracts of presentations at key conferences in endocrinology

ea0015p331 | Steroids | SFEBES2008

Early truncation of the human CYP17A1 protein results in severe neonatal adrenal insufficiency

Ivison Hannah E , Shenoy Savitha , Arlt Felix J , Krone Nils , Shackleton Cedric HL , Taylor Norman F , Arlt Wiebke

CYP17A1 is a key enzyme of human steroidogenesis, which is unique in that it catalyses two reactions, 17-hydroxylase activity converting pregnenolone and progesterone to 17-hydroxypregnenolone (17Preg) and 17-hydroxy-progesterone, respectively, and 17,20 lyase activity, responsible for the conversion of 17Preg to dehydroepiandrosterone the crucial precursor of human sex steroid biosynthesis. 17-hydroxylase deficiency, a variant of congenital adrenal hyperplasia, results in glu...

ea0073aep332 | Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Prevalence of obesity and its association with metabolic diseases in women from low-and-middle income countries (LMICs): A systematic review and meta-analysis

Rocha Thais , Melson Eka , Zamora Javier , Borja M. Fernandez-Felix , Soby Soha , Betran Ana Pilar , Arlt Wiebke , Thangaratinam Shakila

IntroductionObesity is a global health challenge, with more than 50% of the world´s obese population residing in LMICs. Although adiposity is a well-known major risk factor for noncommunicable diseases (NCDs) such as hypertension, and diabetes mellitus, the delivery of effective NCDs interventions is still a challenge to health systems. About 85% of the NCDs premature deaths occur in LMICs. Obesity is more prevalent in women than men, however the bu...

ea0075a21 | Adrenal gland | EYES2021

Impact of COVID-19 on patients with primary adrenal insufficiency: A cross-sectional study

Knowles Gregory , Warmington Emily , Shepherd Lisa , Hazlehurst Jonathan , De Bray Anne , Gleeson Helena , Arlt Wiebke , Prete Alessandro

Background: Patients with primary adrenal insufficiency (PAI) carry an increased risk of infections which can precipitate adrenal crises. They are thought to be more likely to contract COVID-19 and develop severe disease; however, little is known about the true impact of COVID-19 on these patients.Objectives: To assess the response of a large single-centre cohort of PAI patients to COVID-19, focusing on morbidity and health promotion attitudes.<p cla...

ea0086oc5.3 | Metabolism, Obesity and Diabetes | SFEBES2022

Normothermic machine liver perfusion as a tool to study human androgen metabolism

Anthony Amarah , Clarke George , Schiffer Lina , Fan Yiyu , Hawley James , Shaheen Fozia , Hann Angus , Taylor Angela , Afford Simon , Arlt Wiebke

Background: In women, androgen excess is associated with an increased risk of non-alcoholic fatty liver disease (NAFLD). Androgen precursors are released from the adrenal gland and converted to active androgens in peripheral tissues including adipose tissue. Although the liver plays a key role in all metabolic processes in the body, its involvement in androgen metabolism is yet to be explored. Here, we describe the investigation of androgen metabolism in human liver using norm...

ea0086p12 | Adrenal and Cardiovascular | SFEBES2022

Phaeochromocytomas Most Commonly Present As Adrenal Incidentalomas – A Large Tertiary Centre Experience

Aggarwal Sunil , Prete Alessandro , Asia Miriam , Arlt Wiebke , Ronchi Cristina , Sutcliffe Robert , Karavitaki Niki , Ayuk John , Elhassan Yasir

Background: The detection of phaeochromocytomas evolved from autopsy finding to presentation in symptomatic/hypertensive, and genetically-predisposed individuals. Increasingly, phaeochromocytomas are diagnosed in incidental adrenal masses and the impact on the clinical, biochemical, and radiological features is unclear.Methods: Retrospective review of patients with phaeochromocytomas seen at a large tertiary referral centre between January 2010 and May 2...

ea0077oc4.5 | Adrenal and Cardiovascular | SFEBES2021

Circulating cell-free DNA-based biomarkers as a tool for disease surveillance in adrenocortical carcinoma

Smith Gabrielle , Lippert Juliane , Altieri Barbara , Elhassan Yasir , Landwehr Laura , Prete Alessandro , Appenzeller Silke , Chortis Vasileios , Steinhauer Sonja , Asia Miriam , Sutcliffe Robert , Arlt Wiebke , Fassnacht Martin , Ronchi Cristina

Adrenocortical carcinoma (ACC) is a rare aggressive cancer with heterogeneous behaviour. Disease surveillance relies on frequent imaging, which comes with significant radiation exposure. Here we investigated the role of circulating cell-free DNA (ccfDNA) in ACC monitoring. We extracted ccfDNA from 1-4 ml EDTA-plasma using the Nonacus Cell3TMXtract or the Qiagen QIAamp MinElute kit and quantified by fluorimeter. We investigated 63 patients with ACC (25M/38F, 52±...

ea0077p114 | Reproductive Endocrinology | SFEBES2021

PCOS pearls - gathering perceptions and opinions from lived experiences of people with polycystic ovary syndrome

Lau Gar Mun , Elghobashy Mirna , Busby Maureen , Stacke Kristine , Gleeson Helena , Robinson Lynne , Arlt Wiebke , Lindenmeyer Antje , Gillett Caroline , Kempegowda Punith

Introduction: Existing educational resources for polycystic ovary syndrome (PCOS) have limited inclusion of patient perspectives. We invited people with PCOS to share their lived experiences to understand their perception and opinion on the current standard of care.Methodology: Women aged 18-60 years with PCOS were invited to complete an online survey in April and May 2021. The survey had open questions focused on people’s lived experiences with PCO...

ea0081oc13.4 | Oral Communications 13: Adrenal and Cardiovascular Endocrinology 2 | ECE2022

Classic and 11-oxygenated androgens in serum and saliva across adulthood and the menstrual cycle – a mass spectrometry-based cross-sectional study

Kempegowda Punith , Schiffer Lina , Adaway Jo , Shaheen Fozia , Ebbehoj Andreas , Singh Sumitabh , Prete Alessandro , Hawley James M , Sitch Alice J , Keevil Brian , Bancos Irina , Taylor Angela , Arlt Wiebke

Objective: Quantify classic and 11-oxygenated androgens in serum and saliva and determine variations across age, sex, body mass index (BMI), menstruation and hormonal contraception use.Methods: Morning serum samples were collected from 292 healthy volunteers (125 men, 22-95 years; 167 women, 21-91 years). Morning saliva was collected from 83 healthy volunteers (51 women, 32 men). 25 individuals (12 women, 13 men) also collected a 7-timepoint diurnal sali...

ea0081ep129 | Adrenal and Cardiovascular Endocrinology | ECE2022

Altered steroid metabolism in patients following severe trauma: the golden hour study

Bentley Conor , Hazeldine Jon , Bravo Laura , Taylor Angela , Gilligan Lorna , Shaheen Fozia , Acharjee Animesh , Gkoutos Georgios V , Foster Mark , Arlt Wiebke , Lord Janet

Background: Advancements in medical care have significantly improved survival after major traumatic injury and the main risks are now sepsis and multi-organ failure. An understanding of the hormonal, inflammatory and metabolic changes that occur following trauma is still evolving but it is clear that they impact significantly upon patient prognosis. To date, studies that have examined trauma-induced changes in steroid metabolism have analysed samples taken from patients post-h...

ea0050oc4.6 | Adrenal and Steroids | SFEBES2017

Distinct patterns of glucocorticoid metabolism in patients with HNF1A-MODY have the potential to confer a beneficial metabolic phenotype

Juszczak Agata , Gilligan Lorna C. , Hughes Beverly A. , Hassan-Smith Zaki K. , Arlt Wiebke , McCarthy Mark I. , Tomlinson Jeremy W. , Owen Katharine R.

Background and aims: HNF1A-MODY causes monogenic diabetes with a lean, insulin sensitive phenotype. Altered glucocorticoid (GC) metabolism has been implicated in the pathogenesis of type 2 diabetes (T2D) and inhibitors of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) which regenerates active cortisol from inactive cortisone have been trialled as a therapeutic approach. 11β-HSD1 is down-regulated in hepatocytes from Hnf1a knock-out mice but the role...