Endocrine Abstracts

Sleep disordered breathing (SDB), including obstructive sleep apnoea (OSA), is associated with excessive daytime somnolence, and impacts significantly on quality of life in affected individuals. It also predisposes to premature cardiovascular (hypertension, congestive cardiac failure, myocardial infarction, sudden death, and stroke) and metabolic (diabetes mellitus and dyslipidaemia) dysfunction.SDB is a well-recognised complication of acromegaly. In mos...

Background: Acquired male secondary hypogonadism is a relatively common cause of referral to the endocrine clinic. However, the extent to which further investigation is required, and the indications for a trial of testosterone therapy, remain unclear. Aim To review the clinical/biochemical/radiological findings in men presenting with this condition.Methods: We performed a retrospective case analysis of 41 consecutive patients referred to our clinic over ...

We report the first case of familial adrenocortical carcinoma (ACC) in association with hereditary non-polyposis colorectal cancer (HNPCC) in a family with a MSH2 germline mutation.HNPCC, an autosomal dominant disorder caused by mutations in one of the DNA mismatch repair (MMR) genes, is the commonest cause of hereditary colon carcinoma, and is associated with an increased risk of certain non-colonic cancers (e.g. endometrial, ovarian, urin...

Background: Adrenal incidentalomas (AI) are identified in 4–7% of patients >40 years undergoing abdominal CT/MRI. Evidence of subclinical autonomous glucocorticoid hypersecretion (SAGH) is found in 5–10% of cases depending on the diagnostic criteria/thresholds adopted.Aim: To examine the utility of basal DHEAS measurement in the detection of SAGH in a cohort of patients with AI.Methods: Ninety-six consecutive subjects...

Introduction: Corticosteroids are amongst the most prescribed drugs and their use has been linked to cardiometabolic adverse events including weight gain and abdominal adiposity. We previously showed that users were also more likely to have the metabolic syndrome (MetS). Since an essential role in the pathway of glucocorticoid (GC) action is reserved for the glucocorticoid receptor (GR), it could be proposed that GC sensitivity altering polymorphisms could affect the vulnerabi...

A 23-year-old woman presented in May 2018 with acute left-sided hemiparesis following increasingly frequent episodes of morning drowsiness with associated weight loss. She had no significant past medical history or family history. Brain imaging excluded intracranial pathology. Blood tests during a spontaneous hypoglycaemic episode (1.5 mmol/l) identified significant hyperinsulinaemic hypoglycaemia [insulin 392 pmol/l (18–173) and C-peptide 3913 pmol/l (370–1470)]. MR...

Background: Phaeochromocytoma and paraganglioma (PPGL) are highly heritable, with 30-40% due to a germline pathogenic variant. An additional 40% of tumours will harbour a somatic variant. Understanding the variant status of a tumour enables molecular classification. Liquid biopsy offers a novel approach to non-invasive diagnostics by harnessing the ability to detect small amounts of circulating-free DNA (cfDNA) and performing genomic sequencing. There are few ...

Background: Altered signaling of hormones regulating appetite and metabolism is often observed in individuals with obesity (BMI ≥ 30 kg/m2) and related diseases, potentially resulting in increased hunger signaling and metabolic dysfunctions. Previous research indicates that such disturbances may be induced by weight gain itself, but also by other factors such as glucocorticoid excess (e.g. due to stress). However, knowledge regarding the associations between h...

Background: Obesity (BMI ≤ 30 kg/m2) is a chronic and relapsing disease, associated with numerous co-morbidities. Lifestyle intervention is the cornerstone of treatment of obesity, and is considered effective when weight loss of ≤ 5% is achieved. Here, we describe changes in physiological, psychological and behavioral health outcomes in response to a multidisciplinary combined lifestyle intervention (CLI).MethodsIn this longitudinal study we evaluated 97...

Introduction: Mutations in the succinate dehydrogenase gene (SDH) predispose to the development of paraganglioma (PGL) which arise from parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. Identification of an index case results in family ‘cascade’ screening, often of asymptomatic individuals.Aims: To identify prevalence of PGL tumours and elevated plasma metanephrines at first scre...