Searchable abstracts of presentations at key conferences in endocrinology

ea0028p198 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2012

A novel genetic mutation causing MODY 1

Brady Sally , Edwards Mark

Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant inherited disorders causing non-insulin-dependent diabetes. MODY is the most common form of monogenic diabetes, accounting for 1-2 % of diabetes in Europe; however it is often misdiagnosed as Type 1 or 2 Diabetes. MODY is caused mainly by mutations in the GCK, HNF1A or HNF4A genes, the two former accounting for 70% of all cases. A molecular genetic diagnosis is important as it can directly alter patie...

ea0018p33 | (1) | MES2008

Pituitary stalk haemorrhage

Lecamwasam Varunika , Whittle Monica , Edwards Mark

We report the case of a 59-year-old male who presented complaining of several weeks of tiredness, poor appetite and dizziness on standing. He had been treated with flucloxacillin by his GP for otitis externa one week earlier.In 1982, he was diagnosed with nasopharyngeal carcinoma in Hong Kong, which was treated by radical dissection and radiotherapy.On examination, his standing and lying blood pressure were 150/100 and 110/90 respe...

ea0035p920 | Pituitary Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2014

A case or recurrent pituitary apoplexy

Deb Tanya , Sounderajah Viknesh , Ratnasabapathy Risheka , Antonelou Marilina , Baburaj Rajee , Edwards Mark

A 35-year old female presented with a 5 day history of headache, diplopia and reduced visual acuity preceded by 6 months of lethargy and weight gain. Visual field testing revealed left temporal hemianopia. Magnetic resonance imaging (MRI) showed a benign pituitary adenoma with intra-tumoural haemorrhage compressing the optic chiasm. Neurosurgical opinion advised on transphenoidal surgery. However, in view of spontaneous resolution of diplopia and recovery of peripheral vision,...