Endocrine Abstracts

Introduction: Testosterone circulates in the blood mainly bound to albumin and human sex-hormone-binding globulin (hSHBG). It is generally admitted that only the protein unbound fraction of testosterone (free hormone hypothesis) is biologically active. From our routine SHBG binding assay, we observed that SHBG concentration may have an influence on its affinity for testosterone (personal data). To further explore this assumption we used surface plasmon resonance (SPR, Biacore)...

Holistic care for NEN patients:: Holistic care is a ‘gold-standard’ model, defined as that which treats the whole person. A key factor to ensure that all the cogs in the NEN pathway work collaboratively, towards this goal, is to ensure that we are all listening to the perspective of the person living with NEN and that we focus conversations on Quality of Life: what it means to each individual and how we can, together, best help them manage and live well with their il...

Congenital hyperinsulinism of infancy (CHI) is a rare disorder of insulin dysregulation, resulting in persistent hypoglycaemia and its sequelae. More than half of patients have loss-of-function mutations in ABCC8 or KCNJ11 genes encoding subunits of ATP-sensitive potassium (KATP) channels. Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic loss of maternal heterozygos...

Congenital hypothyroidism (CH) occurs due to dysgenesis or dyshormonogenesis of the thyroid gland. Newborn screening for CH was introduced in the UK over 30 years ago and has almost eliminated the severe intellectual deficits caused by the deficiency of thyroxine to the developing brain. The recognised incidence of CH increased immediately post introduction of screening due to the improved detection and diagnosis of cases. However, further increases in the incidence of CH have...

Autoimmune Polyglandular Syndrome (APS1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare but frequently debilitating disorder, usually presenting in childhood and adolescence; it is typically caused by homozygous AIRE mutations. The cardinal manifestations are chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and autoimmune adrenal insufficiency; the development of any two of these three classic features leads to...

Introduction: Youth-onset type 2 diabetes is an emerging public health crisis with a more aggressive phenotype than both adult-onset type 2 and child-onset type 1 diabetes. Family-focused, lifestyle intervention provided by a multidisciplinary team is central to effective management. Group clinics were introduced for all paediatric patients with type 2 diabetes. A service evaluation assessed the clinical impact and effectiveness of this innovative approach.<p class="abstex...

Hormone-secreting adrenal tumours are rare occurrences in women or reproductive age. The commonest is phaeochromocytoma, followed by primary aldosteronism and Cushing’s syndrome. The shared maternal phenotypic feature of these tumours in marked hypertension. They may be difficult to diagnose as many of the clinical features are mimicked by pregnancy, e.g. flushing, weight gain, palpitations. Furthermore hypertensive disease occurs in approximately 5% of pregnant women. Ho...

Some but not all epidemiologic studies suggest an association between vitamin D deficiency and an increased incidence of asthma symptoms. Similar associations have been made with respiratory infections, e.g. influenza, tuberculosis. We are interested in the wider role of vitamin D in maintaining pulmonary health through the induction of both anti-microbial and regulatory pathways. We, and others, propose these are critical to controlling infections in the airways, whilst limit...

The neuronal processing of pheromone signals within distinctive brain structures leads to marked changes in animal behaviour and endocrine status. The highly reproducible and species-specific character of the response to pheromones offers a unique opportunity to uncover the neural basis of genetically pre-programmed behaviours. Molecular and genetic investigation of the mechanisms underlying pheromone pheromone-evoked responses in the mouse nose and brain have revealed a neura...

Adult Neuroendocrine Cancer nursing is a highly specialised field where expertise in both knowledge and appropriate skills can make a significant contribution - ‘especially in the promotion and maintenance of high standards of practice, education for the patient’ and the application of safe evidence-based knowledge and skills ‘the patient requires when diagnosed with a rare disease’ (1). Whilst considered rare, Neuroendocrine Cancer has seen an exponential ...