Endocrine Abstracts

Background: Multiple endocrine neoplasia type 2 associated medullary thyroid carcinoma (MTC) is driven by a strong genotype-phenotype correlation, the risk of aggressiveness being defined by the germline RET pathogenic variant (American Thyroid Association (ATA) guidelines). Based on this classification, the germline c.2370G>C, p.Leu790Phe (L790F) RET variant is considered to be of moderate risk of aggressive MTC, while the germline c.2753T>C, p.Met918Thr (M9...

Introduction: Dupuytren’s disease (DD) corresponds to a chronic palpable thickening of the palmar aponeurosis which leads to different degrees of irreducible flexion of the fingers. It is one of the manifestations of hand syndrome in diabetes mellitus. We highlight through this report the occurrence of DD as a manifestation of diabetic hand syndrome in a patient with type 2 diabetes mellitus.Observation: A sixty-six year old patient, truck driver, t...

Introduction: Management of diabetes in older adults is complicated by the many comorbidities that may interfere with the use of certain oral antidiabetic agents, and the associated geriatric syndromes, psychiatric disorders, and high risk of dependence in this age group. The objective of our study was to determine the factors associated with poor diabetes control in insulin-requiring elderly subjects.Methods: A cross-sectional study on type 2 diabetic i...

The coexistence of Graves disease (GD) and thyroid carcinoma used to be considered uncommon, but association between the two is being progressively acknowledged. Case report: We present the case of a 69-year-old woman with a 10 year history of GD who was referred to our clinic for fatigue, sweating, palpable cervical mass and weight loss. She was treated only in the previous 5 months with block and replace therapy. Laboratory workup at admission showed s...

The enzyme 5β-reductase (AKR1D1) catalyses an essential step in bile acid synthesis. In addition, it controls intra-cellular steroid hormone availability through hormone clearance. As disturbances in steroid hormones and bile acid metabolism have potent effects on metabolic health, we hypothesize that AKR1D1 may play a role hepatic lipid accumulation. We generated global AKR1D1 knockout mice (KO) alongside wild-type controls (WT). Mice were fed either normal chow (NC) or ...

Background: The NPDA has been providing annual audit reports to paediatric units in UK from 2003 and a compliance report for 7 care processes since 2016–2017. Over the years the focus on the type of data and implications of data has changed and become more focused especially after introduction of BPT and PEER review. The paediatric diabetes services at Basildon and Thurrock University Hospitals (BTUH) were identified as negative outliers in 2016–2017 NPDA report. A Q...

Pancreatic beta-cells maintain the body’s glucose levels within a very narrow range. In the face of insulin resistance and obesity, most people do not become diabetic due to the ability of the endocrine pancreas to have compensatory growth. Any limitation on replacement or shortening of lifespan could have dire consequences for glucose homeostasis. Type 2 diabetes develops only when b-cells fail to compensate for increased demand from insulin resistance. While Type 2 diab...

The enzyme 5β-reductase (AKR1D1) catalyses an essential step in bile acid synthesis, but in addition, controls intra-cellular steroid hormone availability by generating 5β-reduced dihydrosteroid metabolites. As disturbances in steroid hormone and bile acid metabolism have potent effects on metabolic health and lipid homeostasis, we hypothesize that AKR1D1 may play a role hepatic lipid accumulation and contribute to the development of metabolic disease. We generated a...

Pituitary adenomas, now called pituitary neuroendocrine tumors (PitNETs), vary in histological type, secretion, invasion and growth speed. A World Health Organization (WHO) histo-prognostic classification was released in 2017. Pituitary tumorigenesis is largely unexplained. Rare germline mutations (MENIN, AIP), and common somatic mutations in somatotroph (GNAS) and corticotroph (USP8) are reported. Recently, genomic analyses have been report...

Corticotrophin-releasing hormone (CRH) stimulation test is used in the differential diagnosis of Cushing’s syndrome. Cushing’s disease tumours carry somatic driver activating mutations in the ubiquitin-specific-protease 8 (USP8) gene in almost half of the cases. The aim of the present study was to examine whether the USP8 mutational status in Cushing’s disease tumours influences the response to the CRH stimulation test. We did a monocentric, re...