Endocrine Abstracts

We present a family of a 45-year-old patient who presented to hospital acutely unwell with metastatic paragangliomas. Unfortunately due to rapidity of his presentation, no genetic testing was performed. He was found to have 5 cm right carotid body tumour. His urine collections confirmed raised (seven times normal) 24 h urine metanephrines 24.55 μmol (normal <3.47 μmol). Shortly after the initial diagnosis he was found to have extensive vertebral body metastases i...

Tuberculosis affecting the pituitary gland is a rare phenomenon and is usually the result of haematological spread from another site. Only 0.9% of cases of TB in the UK, in 2012, showed any CNS involvement, excluding meningitis1. The clinical presentation of pituitary TB, range of hormonal dysfunction and radiological features can vary, making it hard to identify the condition. We report two clinical cases seen in our department.Case 1: A 48-y...

Introduction: In 2017 the term ‘Atypical adenoma’ was removed from the WHO classification, and ‘High-risk adenomas’ was introduced as a term to classify those with rapid growth, radiological invasion, and a high Ki-67 proliferation index. In this retrospective cohort study we have sought to identify the clinical and histological characteristics which are associated with worse outcomes.Methods: Data: We created a dataset of 1793 pa...

Introduction: Children with type 1 diabetes mellitus are at increased risk of autoimmune thyroid and coeliac disease. Reported prevalence figures for thyroid and coeliac disease in this population has been reported in European studies as 3–8%1 and 1–10%2 respectively. Current NICE guidelines (June 2009) recommend screening for both conditions at diagnosis, and then screening annually for thyroid disease thereafter. We aimed to: i) estimate preva...

GH deficiency in adults is associated with physical, psychological and quality of life impairment. A vast range of treatment options is available for GH and with the right device and adequate education and monitoring, patients report a significant improvement in their quality of life. A holistic approach should be adopted when deciding on a treatment regime for GH, which takes into consideration the patient’s physical/cognitive ability and their social environment. The En...

The number of diseases associated with genetic abnormalities has grown exponentially in the last decade. Pituitary tumours are no exception, as now at least nine genes are known to predispose to pituitary tumour development: MEN1, PRKAR1A, AIP, CDKN1B, SDH (A, B, C and D) and DICER1. On the other hand, only a small minority of the pituitary-related gene carriers develop pituitary disease, suggesting that other interfering genes or factors are also important. ...

Stafford Lightman is Professor of Medicine at the University of Bristol and is Director of the Henry Wellcome Laboratories for Integrative Neuroscience and Endocrinology. He started his scientific career working on catecholamines and opioid peptides with Leslie Iversen at the University of Cambridge and provided some of the first data linking opioid peptides with the regulation of neurohypophysial function. At this time he also performed some of the first studies demonstrating...

Epidemiological studies have identified the intrauterine environment as a major contributor to increased rates of metabolic disease in adults, but the underlying mechanisms are poorly understood. Intrahepatic cholestasis of pregnancy (ICP) is a common liver disease of pregnancy that affects 0.5–2% pregnant women and is characterised by increased bile acid (BA) levels in the maternal serum. The influence of ICP on the metabolic health of offspring is unknown.<p class="...

Background: Pubertal timing has importance both for the individual, but also for public health. Previous studies estimate that 60–80% of variation in pubertal onset is genetically determined. Recently, a large genome-wide association study (GWAS) meta-analysis identified 42 loci for age-at-menarche (AAM), which explained 3.6–6.1% of the variation in the general population, but causal genes have not been identified.CDGP is defined as pubertal on...

Background: The measurement of thyroglobulin (Tg) is important in the follow-up of patients with differentiated thyroid cancer (DTC), but interpretation is subject to interference by anti-thyroglobulin antibodies (TgAb). National guidelines recommend measurement of TgAb status but no consensus exists on how surveillance should be adapted in cases of TgAb positivity.Aims: To evaluate the impact of TgAbs on clinical management, in a single-centre cohort of...