Endocrine Abstracts

I would like to present a case of malignant paraganglionoma which first presented as a mass in right clavicle in a 32-year-old female at Cork University Hospital. Her other medical background included Type 2 diabetes controlled on oral hypoglycemic agents and hypertension. On further imaging, she was found to have another mass in peri aortic region and biopsy confirmed the diagnosis and further verified by MIBG scan in March, 2005. Molecular analysis confirmed deletion of exon...

Background: A 5 year old boy who had been born at 29 weeks gestation presented to the paediatrics clinic with abnormally chubby cheeks. Our patient’s great-grandmother had had a similar appearance and his uncle had recently been diagnosed with giant cell granuloma of the jaw. After extensive imaging and genetic work-up, our patient was diagnosed with cherubism: a condition so named because of the resemblance to cherubic putti in Italian art.Cherubis...

Implementation strategies for the elimination of iodine deficiency in the last 10 years in Belarus has achieved the WHO evaluation criteria. This was made possible by the universal use of iodized salt in food manufacturing, food service of all types and the availability of its free-trade network salt addition.The aim of this work was to study the iodine daily intake from food, as one of the measures to monitor iodine supply of the population.<p class...

The calcium-sensing receptor (CaSR) belongs to family C of G-protein coupled receptors (GPCRs) that bind glutamate, GABA, taste molecules and pheromones. Loss-of-function mutations of the CASR gene located on chromosome 3q21–24, cause familial benign hypocalciuric hypercalcaemia type 1 (FBHH1). The genes causing FBHH2 and FBHH3, whose chromosomal locations are on 19p and 19q13.3, respectively, remain unknown. FBHH3, sometimes called the Oklahoma variant (FBHHO...

ApoB isoforms are components of the chylomicron, and of the atherogenic LDL and Lp(a) particles. Ex26 is exceptionally long at 7.57kb as most exons are <500bp. Ex26 is also the site of RNA editing, which generates the ApoB48 isoform instead of ApoB100. The first 3kb of ex26 contains 15 sequences matching the splice site consensus, which could be used in splicing, but are not. Splice sites matching the consensus but which are not used are called pseudosites. How the spliceos...

A 53 year old man, without any previous medical history, presented acutely to the Accident and Emergency Department with a 5 day history of vomiting and abdominal pain on a background of weight loss, fatigue, polyuria and polydipsia for 4 weeks. On examination he was obviously tanned and thin. He was clinically dehydrated and had palpable hepatomegaly. Immediate biochemical testing revealed hyperglycaemia with a venous blood glucose of 20.7 mmol/l, a metabolic acidosis with a ...

Introduction: National Institute of Health and Care Excellence (NICE) has provided guidance for the use of human recombinant GH in the treatment of growth failure in children. An ongoing National GH Audit was established in 2013 by BSPED to maintain a central database and gather information regarding trends in prescribing and facilitate future long-term follow up. This part of the audit looked at the trends of off label prescribing of GH.Method: Data wer...

Introduction: GH therapy is prescribed to UK children for a variety of indications. However, no central record exists, making follow-up studies difficult.Aim: To establish an ongoing audit of UK children and adolescents newly-prescribed GH in order to i) monitor trends in prescribing practice and ii) facilitate future long-term follow-up.Patient population: UK children aged ≤16.0 years newly starting GH therapy.<p class="...

Background: Advanced neuroendocrine tumors (NETs) are associated with poor prognoses. A 4-dose regimen of lutetium Lu 177 (177Lu)-DOTATATE has been shown to improve progression-free survival (PFS) and overall survival (OS) in patients with advanced NETs. This is the first United States (US) study to evaluate the effectiveness and safety of additional doses in patients with progressive NETs.Methods: This was a retrospective chart review of 31 a...

During the last two decades attention has been focused on the role of different neuropeptides in hypothalamic control of feeding behavior. Se-veral hypothalamic peptides that participate in the control of ingestive behavior are produced in neuronal cell bodies of the arcuate nucleus and/or the lateral hypothalamic area. Apart from producing orexigenic or anorexigenic compounds of peptidergic nature, it has recently become apparent that these neurons also produce several classi...