Endocrine Abstracts

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...

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...

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...

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...

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...

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±...

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...

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...

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...

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...