Endocrine Abstracts

Objective: To determine the impact on quality of life and metabolic control of insulin pump therapy in a cohort of young people in south London.Methods: Seventeen children and young people with type 1 diabetes aged 5–17 undergoing assessment for pump therapy were routinely seen by a clinical psychologist as part of their assessment. The majority were aged 13–17. Measures quantifying quality of life (PEDS-QL generic and diabetes specific modules...

An aspiration for many young researchers is to continue training beyond an advanced degree in another country. The current J-1 exchange visa, available to UK citizens for up to five years, provided a gateway for my exciting opportunity to pursue a career in the US. Attending international conferences, such as ENDO and BES, allowed me to identify research groups that were aligned with my interests and ambitions, setting the stage to apply and ultimately begin my current positio...

Background: In May 2010 a dedicated Consultant-delivered Endocrine Telephone Advice Clinic (ETAC) was launched at St Bartholomew’s Hospital as a direct point of access for primary care doctors to obtain endocrine advice about new patients. The proposed benefits of this clinic were to: 1. Reduce unnecessary clinic attendances that could be managed in primary care. 2. Allow for more detailed and less hurried discussions of non-urgent cases than was possible via the on-call ...

Background: Atypical carcinoid tumours are rare which account for about 15% of all carcinoid tumours. Some of those tumours secrete adrenocorticotrophic hormone (ACTH) causing Cushing's syndrome. We present a case which recurred 16 years after being first diagnosed.Case: A 39 years old woman was referred with few months history of weight gain, irregular menstrual periods, muscle aches, difficult going up the stairs, headaches and blurred vision.She was i...

Background: Triple A Syndrome is a rare, autosomal recessive cause of adrenal failure that usually manifests in the first decade. Most cases have isolated glucocorticoid deficiency, but this is accompanied by mineralocorticoid deficiency in approximately 10% of cases. Additional features include alacrima (~90%), achalasia of the oesophageal cardia (~75%), and a progressive neurodegenerative process (~60%). The AAAS gene product is the nuclear pore complex protein ALADIN...

Introduction: Delivering an equitable service is one component defining a quality service. Various factors impact on diabetes control including health beliefs and socioeconomic pressures. To determine the role played by ethnicity and/or deprivation we audited access to insulin treatment regimens and overall diabetes control in our clinic population of children and young people with type 1 diabetes mellitus (CYPT1DM).Methods: Three hundred and twenty-five...

In humans Growth Hormone Receptor (GHR) transcripts exist in two isoforms, the full-length (GHRfl) or exon 3 deletion isoform (GHRd3). Individuals with the GHRd3 isoform are associated with an increased response to recombinant human GH. The d3/fl-GHR polymorphism does not influence adult height. However, an association with the d3/fl-GHR polymorphism has been found with antenatal growth especially in small for gestational age (SGA) infants. H...

Background: PHID is a novel syndrome caused by mutations in SLC29A3, which encodes for the nucleoside transporter protein hENT3. It is associated with multiple endocrine manifestations including severe short stature, pubertal delay and pancreatic exocrine insufficiency. Mutations in SLC29A3 have also been linked to H syndrome and familial Rosai Dorfman Disease (RDD). A key feature of these syndromes is persistent inflammation. Currently there is no treatment for ...

In this talk, which will include part my submission for a PhD in Film Studies in the University of London, I explore some of the reasons for the widespread and enduring popularity of Disney’s first feature-length animated films (Snow White and The Seven Dwarfs (1937), Pinocchio (1940), Dumbo (1941) and Bambi (1942)). Despite their old fashioned style, the first two have recently been rereleased – in 70th anniversary editions in Blu-Ray for...

Introduction: Russell’s Viper is a venomous snake found in South and South East Asia. The snake bite causes coagulopathy, neurotoxicity, renal failure, local effects and even death. But hypopituitarism is an extremely rare complication1. There are only a few case reports from India and Burma and we report the first case from Sri Lanka.Case report: A 49 year old man from a remote part of Sri Lanka was bitten by a Russell’s viper 3 yea...