Endocrine Abstracts

Background: The BTA guidelines for the use of thyroid function tests recommend the measurement of TSH receptor antibodies (TRAb) when investigating hyperthyroidism of uncertain aetiology, in suspected Graves’ ophthalmopathy and in pregnant women with Graves’ disease. An in-house TSH receptor autoantibody ELISA assay (TRAb) was introduced in 2008. This study has audited the assay performance and evaluated its clinical usefulness in a tertiary centre.<p class="abst...

Marshall-Smith syndrome (MSS) is a congenital disorder affecting skeletal and neural development, due to mutations in the nuclear factor I/X (NFIX) gene. NFIX encodes a ubiquitously expressed transcription factor that regulates the expression of viral and cellular genes. To identify novel genes that are misregulated by NFIX mutations, RNA sequencing and proteomics analyses were performed on mouse embryonic fibroblast (MEF) cells derived from a repres...

Background: SARS-CoV-2 targets membrane-bound angiotensin-converting enzyme 2 (ACE2) to achieve cellular entry. Resultant loss of ACE2 function may lead to unregulated activation of the renin-angiotensin-aldosterone system (RAAS), contributing to the pathogenesis of hypertension and triggering a proinflammatory cascade. However, evidence to support this is conflicting, with either no change or an increase in the concentration of circulating aldosterone reported in patients wit...

Background: Glucocorticoids (GCs) modulate glucose homeostasis by acting on metabolic tissues including liver, adipose, and skeletal muscle. ABCC1 is a transmembrane ‘drug-resistance’ transporter expressed in adipose tissue and skeletal muscle with previously unknown physiological function. We recently showed that ABCC1 modulates intracellular GC concentrations and action in adipose. Here, we tested the hypothesis that Abcc1 regulates GC concentrations in skeletal mu...

Introduction: Skeletal muscle cells enable investigation of myogenesis and metabolic function in vitro. Exposure to human serum can provide insight into the impact of endocrine factors upon differentiation and mitochondrial function of skeletal muscle. The aim of these experiments was to optimise the culture conditions using human serum, which it was hypothesised would enhance myogenesis and mitochondrial function of LHCN-M2 human skeletal muscle cells.<p class="a...

Background: Compound heterozygous POLE1 mutations have previously been described as a cause of IMAGe syndrome. The severity of the adrenal insufficiency (AI) at initial presentation has been a subject of ongoing debate. Case report: At 22 weeks gestation the proband’s mother was referred to paediatric endocrinology for low oestriol on antenatal quadruple testing. The pregnancy was complicated by severe growth restriction leading to emergency caesare...

Background: Cystic Fibrosis related diabetes affects 40-50% of adults with cystic fibrosis (CF). This can significantly affect pulmonary function and life expectancy. Kaftrio (Ivakaftor, tezacaftor and elexacaftor) has recently been licensed for use in CF. Previous data highlight that glucose regulation may be altered on commencing this treatment.Methods: Eight children and young people (CYP), aged 14 (12-15) years, who were diagnosed with CFRD aged 12.8...

The retinoic acid receptor gamma (RARg, encoded by NR1B3/RARG) is significantly downregulated but not mutated in the MSKCC and PRAD prostate cancer (PCa) cohorts in the Cancer Genome Atlas (TCGA) data. We investigated the consequences of modifying RARg expression.Independent of ligand, stable RARg knockdown stimulated RWPE-1 and LNCaP cells proliferation, changed the cell cycle profile and significantly altered global gene expression patterns th...

Background: No effective blood biomarker exists to detect and clinically manage bronchopulmonary (BP) neuroendocrine tumors. We developed a blood-based 51 neuroendocrine tumor (NET)-specific transcript set to diagnose and monitor gastroenteropancreatic NETs. In this study, we examined whether the signature functioned in lung NETs. Thereafter, we examined performance metrics to assess clinical utility. The multianalyte gene signature accurately diagnosed the tumor and in additi...

Introduction: Neuroendocrine tumours (NETs) have diverse natural history and clinical syndromes. As a result of the disease or related to management, patients may have altered gut or pancreatic function that can cause nutritional deficiencies. There is a lack of consistent evidence-based dietetic guidance for patients with NETs.Aim: This study evaluated whether nutritional status and nutritional deficiencies had been assessed in patients with NETs in an ...