Endocrine Abstracts

Multiple Endocrine Neoplasia type 1 (MEN1) is a highly penetrant autosomal dominant disorder characterized by the combined occurrence of parathyroid, anterior pituitary and pancreatic islet tumours. Affected individuals are also at risk from a wider spectrum of tumours, which includes thymic and bronchial carcinoids, and adrenal cortical tumours. MEN1 results from germline mutation of the MEN1 gene, which encodes the tumour suppressor protein Menin. The absence of a g...

Drug-induced hyperprolactinaemia is a frequently encountered clinical entity due to the large number of commonly prescribed medications that may influence prolactin secretion. Anti-psychotics, anti-depressants and anti-emetics are most frequently culpable, predominantly due to inhibitory effects on hypothalamic-pituitary dopamine signalling. The onset and severity of hyperprolactinaemia may be highly variable, and individuals may harbour typical symptoms (e.g. galactorrhoea, a...

The scientific abstract provides the researcher with an opportunity to communicate their research efforts concisely to a wider target audience. Most commonly, this is as part of a research article or submission to scientific meeting, and in each situation, the preparation of a well-written abstract will enhance the likelihood of a successful outcome (e.g. an article being sent for peer-review, or conference abstract being accepted for oral presentation). Indeed, a well-structu...

A number of challenges are faced by those wishing to pursue a career as an academic clinician. Perhaps the most obvious hurdle for those at a junior stage of research career, is achieving sufficient academic success to attract ongoing research funding, whilst achieving the clinical standards required for the completion of training and in due course, revalidation. The introduction of the integrated academic clinical training program has helped address this balance, improving op...

The prolactin receptor (PRLR) signals predominantly through the JAK2-STAT5 pathway regulating multiple physiological functions relating to fertility, lactation, and metabolism. Understanding of PRLR signalling is incompletely defined, with progress hampered by a lack of reported disease-associated variants in the genes for the prolactin hormone (PRL) and/or PRLR. To date, two common germline PRLR variants are reported to demonstrate constitutive activity, with one, Ile146Leu, ...

We report the results of the first Europe-wide survey of patients with multiple endocrine neoplasia (MEN) disorders by the European MEN Alliance (EMENA). METHOD: An online questionnaire was distributed via patient groups, social media and health professionals. A total of 284 responses were analysed. RESULTS: 35% (n=99) UK responses and 65% (n=185) from 17 other EU countries: 68% female, 32% male (UK; 75% and 25%). Disorders represented were: MEN1 n=2...

We report the results of the first Europe-wide survey of the Quality of Care of patients with multiple endocrine neoplasia (MEN) disorders by the European MEN Alliance (EMENA).Method: An online questionnaire was distributed via patient groups, social media and health professionals. A total of 284 responses were analysed.Results: 35% (n=99) of responses were from UK patients and 65% (n=185) from 17 other EU countri...

Background: Despite a wealth of gene-discovery studies identifying recurrently mutated genes in hereditary and sporadic endocrine tumours, the molecular mechanisms underpinning tumourigenesis frequently remain ill-defined, in part reflecting a lack of physiologically relevant model systems to investigate gene function. Here, using pancreatic neuroendocrine tumours as an example, we explored the utility of human induced pluripotent stem cell (iPSCs) and CRISPR/Cas9 gene-editing...

Purpose: High serum prolactin concentrations have been associated with adverse health outcomes in some but not all studies. This study aimed to examine the morbidity and all-cause mortality associated with hyperprolactinaemia.Methods: A population-based matched cohort study in Tayside (Scotland, UK) from 1988 to 2014. Record-linkage technology (biochemistry, prescribing, hospital admissions, cancer registration, mat...

Background: Despite a wealth of gene-discovery studies identifying recurrently mutated genes in hereditary and sporadic endocrine tumours, the molecular mechanisms underpinning tumourigenesis frequently remain ill-defined, in part reflecting a lack of physiologically relevant model systems to investigate gene function. Here, using pancreatic neuroendocrine tumours as an example, we explored the utility of human induced pluripotent stem cell (iPSCs) and CRISPR/Cas9 gene-editing...