Endocrine Abstracts

Background: 3-M syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth restriction, normal intelligence and dysmorphic facial features. Mutations in the genes encoding Cullin 7 (CUL7) and Obscurin like-1 (OBSL1) have been shown to cause 3-M syndrome.Aims: To characterize CUL7 production and localization in a primary fibroblast cell line from a patient with 3-M syndrome due to a CUL7 mutation and to assess cell prol...

IntroductionThe MTNR1B gene encodes a receptor for melatonin, a hormone that controls biorhythms. The gene is expressed primarily in the brain, but also in human pancreatic cells. Genetic studies suggest that variability in the MTNR1B gene is one of the factors sought to influence the pathophysiology of type 2 diabetes mellitus (T2DM). The single nucleotide polymorphism rs10830963 shows the strongest association. Our aim was to compare ...

Introduction: Prior studies have demonstrated that individuals with phaeochromocytoma and paranganglioma may manifest activation of Brown Adipose Tissue (BAT) as a result of excess catecholamines secretion1–2. In this case series, we describe two cases featuring patients with phaeochromocytoma who exhibited increased uptake of BAT on 18-FDG-PET/CT scans.Case 1: A 74-year-old woman was referred to the Endocrinology department wi...

Since the discovery of mutations in succinate dehydrogenase (SDH) complex early this century, it has been shown that tumours underpinned by deficiencies in this metabolic enzyme will demonstrate altered cell metabolism. However, the precise nature of these changes remains poorly described. The metabolic network within cells is highly redundant, with multiple pathways capable of synthesising the required building blocks for cell growth. By the very fact that SDH-deficient cells...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pituitary and pancreas. MEN1 is caused by mutations of the tumour suppressor gene MEN1, and MEN1 germline mutations are found in >75% of MEN1 patients. The remaining 25% of patients may have mutations involving as yet unidentified gene...

Worldwide, ˜300,000 new cases of differentiated thyroid cancer are reported per annum and thyroid cancer now represents the most rapidly increasing cancer in the US and in the UK. In general terms, outcome is good (10-year survival >90%). However, up to 25% of patients develop local or regional recurrences, and have a significantly reduced life expectancy. We hypothesise those thyroid tumours which subsequently recur display a distinct pattern of driver ...

Since the discovery of mutations in succinate dehydrogenase (SDH) complex early this century, it has been shown that tumours underpinned by deficiencies in this metabolic enzyme will demonstrate altered cell metabolism. However, the precise nature of these changes remains poorly described. The metabolic network within cells is highly redundant, with multiple pathways capable of synthesising the required building blocks for cell growth. By the very fact that SDH-deficient cells...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pituitary and pancreas. MEN1 is caused by mutations of the tumour suppressor gene MEN1, and MEN1 germline mutations are found in >75% of MEN1 patients. The remaining 25% of patients may have mutations involving as yet unidentified gene...

Worldwide, ˜300,000 new cases of differentiated thyroid cancer are reported per annum and thyroid cancer now represents the most rapidly increasing cancer in the US and in the UK. In general terms, outcome is good (10-year survival >90%). However, up to 25% of patients develop local or regional recurrences, and have a significantly reduced life expectancy. We hypothesise those thyroid tumours which subsequently recur display a distinct pattern of driver ...

Introduction: LAN, a somatostatin analogue, is a common first-line treatment for NETs. LAN comes as a pre-filled, ready-to-use syringe, administered every 4 weeks. In the UK, patients may receive LAN at home. The aim of PREF-NET was to generate real-world evidence describing patient’s experience of LAN administered in homecare and hospital settings, and the associated impact of treatment setting on other areas of patients’ lives.Methods: PREF-N...