Searchable abstracts of presentations at key conferences in endocrinology

ea0014p84 | (1) | ECE2007

Response to metformin treatment in adolescent siblings with familial partial lipodystrophy of the dunnigan variety (FPLD) due to the R482W LMNA gene mutation

Ryan James , Kiely Patrick , Crowley Vivion , Maher Michael , O’Connor Rosemary , O’Halloran Domhnaill

FPLD is a rare monogenic cause of insulin resistance. We document responses to treatment with metformin in 2 adolescent sisters with FPLD due to heterozygosity for R482W LMNA gene mutation.The probands, aged 14 and 16 years, presented with secondary amenorrhoea, hirsutism and progressive acanthosis nigricans. Phenotypically they showed central obesity, nuchal enlargement, and thin muscular arms. These changes occurred post-pubertally. Anthrpometri...

ea0014p471 | (1) | ECE2007

Pseudophaeochrocytoma presenting with catatonia - a novel observation

Jafar-Mohammadi Bahram , Walsh Thomas , Barry John , Ryan James , Mullan Eleanor , Cassidy Eugene , O’Connor Michael , O’Halloran Domhnall

A 74 year old lady was admitted with an agitated depression. She had been taking Lorazepam and Olanzapine throughout the preceding 6 months. Escitalopram had been introduced 2 months prior to admission and the dose was escalated 3 weeks prior to presentation. The dose of Olanzapine was doubled at the same time.She was treated with sotalol for atrial fibrillation and she had documented labile hypertension (BP range 77/57–250/118). She had fluctuating...