Endocrine Abstracts

Ipilimumab (an anti-CTLA-4 antibody) treatment has been associated with Immune Related Adverse Events (iRAEs) of the endocrine system. However the frequency of iRAEs in programmed cell death (PD-1) receptor agent use is incompletely characterised, though initial studies report an incidence of 0.5%. We present a case of Pembrolizumab-induced hypophysitis in a 47 yo. male with melanoma. Presenting in 2007 with an initial diagnosis of melanoma, with lymph node recurrence in 2013....

Introduction: Cushing’s disease (CD) and acromegaly, despite their different specific symptoms, often present psychopathology (mainly depression and anxiety) even after hormonal normalization. However, their psychopathological profiles may be different. The aim of this study was to analyse the psychopathological profile in successfully treated Acromegaly and CD, and to compare both diseases. Current hormonal evaluation and time since endocrine control will also be analyse...

A previously healthy 12 year old girl presented to the emergency department with loss of consciousness and increased work of breathing. She was unwell for 3 days prior to presentation with vomiting and lethargy. There was a 3 week history of polydipsia and weight loss. On assessment, Glasgow Coma Scale (GCS) was 7/15, pupils size 3, equal but poorly responsive. She was hypertensive BP 140/70 mmHg, HR 113 bpm, and capillary refill time 5 seconds. There was left arm decorticate ...

Background/objectives: Kabuki Syndrome 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function of histone 3 lysine 4 mono-methyltransferase KMT2D. In addition, to neurodevelopmental features, some Kabuki Syndrome patients also exhibit endocrine-related phenotypes, such as hypoglycaemia. KMT2D is involved in global gene regulation, therefore, it is important to have a systems-based approach to understand pathomechanisms of KS1.<p class="abstext"...

Background: Patients with Cushing’s syndrome (CS) in remission show residual cardiometabolic derangements leading to increased cardiovascular risk. Impaired characteristics of gut microbiome (dysbiosis), such as richness, diversity and composition, have been associated with several cardiometabolic risk factors, including obesity, insulin resistance and atherosclerosis. Whether CS patients present with intestinal dysbiosis is currently unknown. Our study was aimed at evalu...

Regulators are concerned about the potential for environmental chemicals such as agrochemicals and their metabolites to perturb hormone systems. This has led to recommendations for the testing of potential endocrine disrupting chemicals1. The Steroidogenesis H295R assay is an in vitro cell model used to investigate compound effects on steroid hormone biosynthesis, specifically 17β-estradiol (E2) and testosterone (T). The human H295R adreno-carcinoma ce...

Background: Non-alcoholic fatty liver disease (NAFLD) is now the most common liver disease in children and young people. NAFLD can progress to cirrhosis and is associated with cardiometabolic morbidity and mortality, often requiring liver transplant. Brown adipose tissue (BAT) expends energy for thermogenesis when activated by pharmacological agents, e.g. β3-adrenergic receptor agonists, or environmental signals such as cold exposure. We hypothesise that intermittent cold...

Introduction: Previous results of our group, presented in the ECE last year, showed a lower gene expression of proconvertase PC1/3, involved in the processing of POMC, in silent corticotroph tumors (sCT) than in functioning ones (fCT), overall and in microadenomas. The aim of the present study was to quantify the protein expression of convertases involved in the processing of POMC (PC1/3) and in the degradation of ACTH (PC2, CPE and PAM) in a series of CT.</p...

Background: Immune related adverse events (iRAEs) of the endocrine system are commonly recognised in Checkpoint Inhibitor Therapy treatment with current research suggesting clinically significant endocrinopathies occur in 10%. As the use of these drugs continues to rise, so too does the importance of routine endocrine monitoring in order to avoid potentially life-threatening adverse-events.Aims: To establish the frequency, severity, management and outcom...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. To obtain an experimental model resembli...