Endocrine Abstracts

Physiology shows vitamin D has a role in the immune system and glucose metabolism. Experimental and epidemiological studies demonstrate associations between type 1 diabetes mellitus (T1DM) and vitamin D levels. Vitamin D deficiency appears undesirable in T1DM, although its significance in aetiology and progression is controversial.We reviewed the outcome of implementing vitamin D screening at T1DM diagnosis. Methods were review of diabetes register, hosp...

Background: NF1 and MEN2 are rare conditions known to associate with bilateral phaeochromochtomas. We describe, with relevant associated radiology, a NF1 patient developing a series of neuroendocrine tumours including bilateral phaeochromocytomas.Clinical case: A 39-year-old lady presented with long standing episodic abdominal pain, diarrhoea, palpitation and sweating. Past history includes first arch syndrome and NF1 at teens and total thyroidectomy for...

Introduction: Strontium ranelate (SR) is a dual action bone agent that increases bone formation and reduces bone resorption. Previous long term studies with SR have demonstrated minimal reductions in parathyroid hormone (PTH) and adjusted calcium (ACa) levels with increase in phosphate (PO4) concentrations, but the exact mechanism of action of SR remains unclear. Postmenopausal women with low bone mineral density (BMD) have relatively high circulating PTH concentrat...

Background and Hypothesis:- A common NOS3 Single nucleotide polymorphisms (SNP) (894 G/T) which encodes a Glu298Asp amino acid substitution in endothelial NO synthase has been associated with cardiovascular disorders in which NO bioactivity is impaired. The gene coding for p22phox, a critical component of the NADH/NAD(P)H oxidase enzyme system, a major source of vascular SO, is CYBA. Among the allelic polymorphisms reported in CYBA is C242T, associated wit...

Increased superoxide(SO) production reduces nitric oxide(NO) bioactivity and increases oxidative stress contributing to endothelial dysfunction in vascular disease. The gene coding for p22phox, a critical component of the NADH/NAD(P)H oxidase enzyme system which produces vascular SO, is CYBA. Among the allelic polymorphisms reported in CYBA is C242T which is associated with progression of coronary atherosclerosis. Radial applanation tonometry with pulse waveform analysis (PWA)...

Insulin-like growth factor (IGF-1) has been postulated to function as a vasodilator via a nitric oxide (NO) pathway. IGF-1/growth hormone deficiency in humans is associated with endothelial dysfunction and increased cardiovascular mortality.We compared the effects of IGF-1 on vascular function in control Wistar-Kyoto (WKY) (n=6) and stroke-prone spontaneously hypertensive rats characterised by endothelial dysfunction (SHRSP) (n=7)....

Background: Obstructive sleep apnoea (OSA) is characterised by recurrent upper airway obstruction during sleep resulting in abnormal ventilation and sleep patterns. Paediatric obesity is associated with a significantly increased OSA risk. Prompt recognition and management of OSA is important to reduce the risk of complications, including cardiovascular, growth, behavioural and glycaemic. We describe initial experiences of using the Paediatric Sleep Questionnai...

Introduction: Despite an increasing incidence of adolescent type 2 diabetes mellitus (T2DM) with its associated morbidities and poor long-term prognosis, there remains uncertainty in its management. The National Institute for Health and Clinical Excellence (NICE) currently recommends initial lifestyle modifications alongside pharmacology management with metformin. Despite being shown to be effective in adults, little is known about the impact of lifestyle inte...

Introduction: A proportion of severe obesity is due to monogenic inheritance, however access to genetic testing is often limited which may underestimate prevalence. We report our data obtained via the Rare Obesity Advanced Diagnosis™ genetic testing program established to diagnose rare genetic causes of obesity.Methods: 49 patients (22 male) under the care of a tier 3 paediatric weight management service with early-...

Introduction: This case series consist of three brothers who are aged 24, 27 and 28. The eldest brother was diagnosed with CAH at 18 days when he presented with poor weight gain, vomiting and persistent jaundice with hyponatraemia. The parents received genetic counselling for the next two pregnancies and all three children were managed with hydrocortisone and fludrocortisone maintainence therapy. They were closely monitored for their growth rates, signs of precocious puberty a...