Endocrine Abstracts

Background: Diabetic ketoacidosis (DKA) is a well-known complication in children with type 1 diabetes (T1DM) with a mortality rate estimated at 2%. Sparse data are available from the literature describing socio-demographic factors associated with DKA admissions in children. A previous study identified that children of non-Caucasian race and Medicaid, with T1DM, had increased incidence of DKA admissions.Aims: To identify the socio-demographic factors asso...

Background: The melanocortin 2 receptor (MC2R)/melanocortin 2 receptor accessory protein (MRAP) are critical components of the hypothalamo-pituitary-adrenal axis (HPA). MRAP2, homologue of MRAP, can also regulate the MC2R in vitro, however, the physiological significance of this is unclear. We studied the expression of the MRAPs and MC2R in a well-defined rat model of endotoxin induced septic shock. These animals have been shown to have higher ACTH and corticosterone le...

Introduction: Palpable thyroid nodules have a prevalence of 4–7%, which increases with imaging. About 5% are malignant. Efficient management is essential. USG and FNAC are valuable in assessing and preventing unnecessary thyroidectomies. Objective To compare our practice with local and Royal College of Pathologists guidelines. Methods All thyroid nodule patients seen in clinic between April to September 2010 were included. Data collected included age, gender, TFT, thyroid...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to the action of ACTH leading to glucocorticoid deficiency with preserved mineralocorticoid and gonadal function. In 1993 we identified mutations in the ACTH receptor (melanocortin 2 receptor; MC2R), although these only explained around 25% of cases. More recently a traditional homozygosity mapping approach identified mutations in a novel gene which we named melan...

GHI is a genetic condition in which patients present with growth failure due to primary IGF1 deficiency caused by a defect in the GH-IGF1 axis. In the last 10 years in the Centre for Endocrinology of WHRI at Barts and the London, 24 causative mutations in genes of the GH–IGF1 axis have been determined in 58 patients (Table 1). STAT5B mutations were responsible in 2 cases, IGFALS in 4 but the majority of defects identified were in GHR. Most mutations identifi...

Background and aims: The melanocortin-2-receptor accessory protein (MRAP) is essential for melanocortin-2-receptor (MC2R) function through receptor trafficking and signalling, enabling adrenal glucocorticoid synthesis in response to ACTH stimulation. Disabling mutations of MRAP result in life-threatening glucocorticoid deficiency, known as familial glucocorticoid deficiency type 2. MRAP has a single paralogue in the human genome, MRAP2. In vitro MRAP2 has a similar acti...

Background: FGD is an autosomal recessive disorder causing glucocorticoid deficiency. Mutations in the ACTH receptor (MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 & 2 respectively. All the reported MRAP mutations result in abolition of a functional protein. This is reflected clinically as type 2 patients present early, no patient described to date has presented later than 1.6yrs. In contrast FGD type 1 mutations are usually missense and patients have a medi...

Glucocorticoids (GCs) are used to treat inflammatory diseases because they downregulate expression of numerous inflammatory mediators. This is at least partly achieved through functional interference of the glucocorticoid receptor (GR) with transcription factors such as NF-κB (transrepression). On the other hand, activation of transcription by GR is responsible for some of the side effects of GCs. Efforts to improve the safety profile of GCs are focused on the identificat...

Over the last 10 years there have been significant advances in stem cell transplantation (SCT) in adults for haematological malignancies leading to improved survival. Conditioning regimes prior to transplantation often utilise high dose chemotherapy and/or total body irradiation (TBI). Significant endocrinopathies have been reported amongst children undergoing SCT. We report the effect of SCT during adult life on endocrine function.Basal hormone levels w...

Introduction: The incidence of primary hyperparathyroidism (PHPT) is ~3.5/100 000 per yearThe incidence is on the rise due to increase in ‘routine biochemical testing’Has been thought to be a ‘relatively harmless’ disorder.Some patients tend to undergo surgery, while others are conservatively treated and most followed up for a short period before discharge from follow up.Aims:<l...