Endocrine Abstracts

Genome-wide association studies have repeatedly shown that the strongest association with human BMI is arising from variants in the first intron of Fto. It has recently been demonstrated that intronic Fto variants are within an adipocyte-specific enhancer and that risk allele carriers have altered Irx3 and Irx5 expression in early adipogenesis (Claussnitzer et al. NEJM 2015). The aim of our study is to investigate the functional role of Irx3 in adipocytes. We show that silenci...

Aim: To assess whether using urine catecholamines as a second line investigation has affected clinical decision making in patients with suspected pheochromocytoma and paraganglioma.The need for the audit: New society of endocrine guidelines in June 14, have recommended using urine metanephrines as the initial screening test for PPGL. Current practise at University Hospital Wales is to offer urine catecholamines as the second line test to patients with a ...

Introduction: There is growing real-world experience of the SGLT2 inhibitor class for type 2 diabetes mellitus (T2D). We performed an audit of clinico-biochemical effects of SGLT2 inhibitor use for patients with diabesity in the context of a tier-3 obesity service within a UK-based teaching hospital.Methods: We included patients with a confirmed diagnosis of T2D who had been treated with an SGLT2 inhibitor within licensed indications (monotherapy and add...

The importance of weight reduction in the management of diabesity is well-established. However, significant weight loss can be difficult to achieve without bariatric surgery, even within specialist tier 3 obesity services. Here we describe the case of a 52 year old man who presented to weight management clinic. He had made multiple weight loss attempts, but with little success. On presentation, his weight was 140.8 kg with a BMI of 40.3 kg/m2, and he had now been static at thi...

Introduction: The testicular disorder of sexual differentiation (DSD) is a rare clinical condition with a reported incidence of 1:20 000 newborn males. It is characterised by a male phenotype with 46,XX karyotype. There are three clinical phenotypes: normal male phenotype, males with genital ambiguities and males who are true hermaphrodites. SRY positive 46,XX testicular DSD results from the translocation of a Y chromosome segment containing the SRY gene during spermatogenesis...

Introduction: Associations of autoimmune thyroid disease (AITD) with autoimmune gastri-tis and mental disorders have been suggested, but evidence for a connection is lacking.Methods: We compared the co-incidence of parietal cell antibodies (PCA>20 RE/ml), intrinsic factor antibodies (IFA>1.19 AU/ml), vitamin B12 plasma levels (<200 pg/ml) and mental illness in patients with AITD (n=398), e.g. active (TPO+), atrophic (TPO−) and ...

A 51-year-old man presented to an optometrist with a 3-week history of visual impairment following a minor headache. He was found to have reduced visual acuity 6/24 in both eyes and a dense bitemporal hemianopia and was referred urgently to Musgrove Park Emergency Department. MRI brain showed a cystic bleed from a pituitary macroadenoma, 30 mm in diameter, with compression of the optic chiasm. He had no clinical features of Cushing’s or other hormone excess or deficiency ...

We present a case of a 50 year old patient with sepsis and a significant and symptomatic hypercalcaemia of 3.38 mmol/l with a background of MS. The infection responded to treatment however the hypercalcaemia persisted despite appropriate measures. Further investigation showed a suppressed PTH, normal ACE level, electrophoresis and 25(OH) vitamin D level, but found her to be thyrotoxic with TSH suppressed at <0.01, free T4 – 37.2 nmol/l, free T3 – 212 nmol/l. She ...

The human somatostatin receptor 3 (hsst3) is expressed in about 50% of all neuroendocrine tumours. The sst3 receptor is unique among somatostatin receptors which can initiate apoptosis of tumour cells through activation of the tumour suppressor p53. Furthermore, treatment of the sst3 receptor with somatostatin or stable somatostatin analogues such as octreotide or pasireotide can inhibited tumour cell proliferation. However, at present little is known about the agonist-induced...

Introduction: Adolescence is recognised as a period where compliance to diabetes treatment is challenging and adolescents assume increasing responsibility for their diabetes self-management. In this study we investigated whether giving modest financial rewards motivated teenagers with type 1 diabetes to improve glycaemic control.Methods: Population; young people with type 1 diabetes, age 13–16 years at entry, duration of diabetes of >2 years and...