Searchable abstracts of presentations at key conferences in endocrinology

ea0044ep20 | (1) | SFEBES2016

Adult presentation of hypophosphatasia due to a novel compound heterozygous Tissue Nonspecific Alkaline Phosphatase (ALPL) mutation

Farrell Catriona , Strachan Judith , Sankar Sripada , McWilliam Catherine , Alipour Faz , Newey Paul , Schofield Chris

A previously well 27-year old female presented with atraumatic foot pain to the orthopaedic service and was identified to have a healing subacute metatarsal stress fracture in the right foot. In view of the unusual presentation, the patient was referred to the metabolic bone clinic for further evaluation.On initial evaluation the patient reported no prior skeletal, joint or dental problems. However at the time of review she reported pain in her right thi...

ea0059cmw3.1 | Workshop 3: How do I. . . (1) | SFEBES2018

How Do I\.\.Manage Diarrhoea in Patients with NETs

Strachan Mark

Diarrhoea is a common symptom in patients with neuroendocrine tumours (NETs), especially metastatic small bowel NETs. Diarrhoea substantially impairs quality of life, as increased frequency of bowel moments with associated urgency, cause social embarrassment and constrain diet and the ability to leave the house. Diarrhoea, with associated electrolyte disturbance, was a major cause of premature death in patients with NETs prior to the advent of medical therapies. It is importan...

ea0059cmw5.6 | Workshop 5: How do I. . . (2) | SFEBES2018

How Do I\..Investigate Sweating

Strachan Mark

Sweating in the absence of any physiological precipitant can be extremely distressing and unpleasant. Primary hyperhydrosis, usually affecting the palms of the hands, soles of the feet and the axillae, usually presents in teenage years and is managed by dermatologists. Secondary hyperhydrosis usually develops later in life, is more generalised and may be associated with flushing. The differential diagnosis is very long and includes systemic illness (such as lymphoma and chroni...

ea0020s22.1 | Tumorigenesis in pheochromocytoma/paraganliomas | ECE2009

The Warburg effect in pheochromocytoma: a link between genetic disorders and cell metabolism

Favier Judith

Tumorigenesis and intermediary metabolism have a long common history. Eighty years ago, the biochemist Otto Warburg pioneered a large field of researches devoted to the metabolism of tumour cells. He reported a spectacular shift from a normal aerobic metabolism to a highly glycolytic metabolism, associated with a low respiration rate, despite aerobic conditions. After being forgotten for decades, a renewed interest in the Warburg effect has resulted from the report that, mitoc...

ea0056s15.3 | EYES: New aspects in the study of neuroendocrine diseases | ECE2018

Epigenetic and metabolic reprogramming of SDH deficient pheochromocytomas and paragangliomas

Favier Judith

SDHA, B, C, and D (SDHx) genes encode the four subunits of succinate dehydrogenase (SDH), a mitochondrial enzyme of the tricarboxylic acid (TCA) cycle that oxidizes succinate into fumarate. They were the first genes encoding a mitochondrial enzyme demonstrated to act as tumor suppressors, an important finding supporting the hypothesis of a direct link between mitochondrial dysfunction and cancer proposed by Otto Warburg in the 1920’s. It is estimated that germline mutatio...

ea0055cb10 | Additional Cases | SFEEU2018

A 60 year history of recurrent hypoglycaemia

Foteinopoulou Evgenia , Colclough Kevin , Strachan Mark

A 69 year old male was referred with a 60 year history of recurrent hypoglycaemia. Over the previous 12 months he had several episodes of severe hypoglycaemia, which necessitated emergency treatment from paramedics. He had been diagnosed with a hypoglycaemic disorder at the age of 9 years, but no underlying cause had been identified. He had no other previous history of note, though he was macrosomic at birth with a birth weight of approximately 5.9 kg. His mother was diagnosed...

ea0028p360 | Thyroid | SFEBES2012

Predicting risk of relapse following thionamide withdrawal in Graves’ disease

Gibb Fraser , Strachan Mark , Zammitt Nicola

Background: Male sex, cigarette smoking, young age, severe thyrotoxicosis, large goitre and marked or persistent elevation of TRABs are consistently reported as predictors of relapse following withdrawal of thionamides in Graves’ disease. Early recurrence rates are commonly quoted at 50% but the definition of early recurrence varies widely across the literature. AIM We sought to determine the best clinical predictors of recurrent thyrotoxicosis and whether these would per...

ea0005p261 | Thyroid | BES2003

The epidemiology of thyroid cancer in Scotland, 1960 - 1999

Weir J , Brewster D , Strachan M

Background : The aim of this study was to investigate trends in incidence, mortality and survival for thyroid cancer, in Scotland.Methods : Thyroid cancer registration data (for the period 1960-1997) were obtained from the Scottish Cancer Registry and death registration data (1960-1999) were provided by the General Register Office, Scotland. Trends were examined using rate calculations and relative survival analysis.Results : During the period 1960-1997, the age-standa...

ea0050p393 | Thyroid | SFEBES2017

Long-term relapse rates following thionamide withdrawal in Graves’ thyrotoxicosis and the predictive role of TRAbs

Tun Nyo Nyo , Gibb Frase , Strachan Mark , Zammitt Nicola

Background: Thionamides are a safe and effective treatment for Graves’ thyrotoxicosis and tend to be favoured over radioiodine in the UK. Risk of recurrence following cessation of thionamides is high although most studies tend to have short duration of follow up. We have previously published follow-up data to 4 years in this cohort and now present follow-up out to 7 years.Methods: Retrospective review of first presentation Graves’...