Endocrine Abstracts

In overt or subclinical ACTH-independant Cushing’s syndrome (CS), aberrant adrenal receptors may control cortisol secretion.We systematically studied the 20 patients with adrenal incidentaloma screened in our department for illegitimate adrenal receptors between 2000 and 2006. We investigated plasma cortisol level during successive stimulation tests performed while dexamethasone was given orally every 8 h (upright posture, meal, hypothalamic hormone...

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...

Within the group of gonosomal aneuploidy, the 47,XXY Klinefelter syndrome is a well-known chromosomal anomaly with a clearly delineated phenotype. Since the 48,XXYY polysomy is rather rare and associated with hypogenitalism, it has often been considered as a variant of the Klinefelter syndrome. Nevertheless, several differences have been reported, in particular the greater severity and prevalence of mental retardation and psychiatric illness in patients with a 48,XXYY syndrome...

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...