Searchable abstracts of presentations at key conferences in endocrinology

ea0031p151 | Neoplasia, cancer and late effects | SFEBES2013

Phenotype–genotype analysis in a cohort of patients with multiple endocrine neoplasia type 1 identifies a novel nonsense mutation at codon 554

Reddy Snigdha , Goudie Calum , Parker Victoria , Park Soo-Mi , Treacy Becky , Simpson Helen

Aims: MEN1 is characterised by parathyroid, pituitary and pancreatic tumours in association with neoplasia of intra-thoracic endocrine tissue, adrenal glands and cutaneous manifestations. Mutations of the tumour suppressor Menin are causative and affected patients possess heterozygous germline mutations in MEN1, with acquisition of a second hit in the wild-type allele initiating tumourigenesis. Phenotype–genotype correlations can provide insights into the molecular functi...

ea0031p165 | Neoplasia, cancer and late effects | SFEBES2013

Audit of patients with multiple endocrine neoplasia type 1 in a tertiary referral centre

Goudie Calum , Reddy Snigdha , Parker Victoria , Curran Suzanne , Corrie Pippa , Shaw Ashley , Jamieson Neville , Praseedom Raaj , Huget Emmanuel , Jah Asif , Carroll Nicolas , Buscombe John , Park Soo-Mi , Simpson Helen

Aim: To review the presentation, management and outcomes in adult patients with MEN1 attending a multidisciplinary clinic.Methods: Case notes and electronic records were reviewed in patients attending a tertiary centre clinic for care of MEN1.Results: Forty-eight patients were analysed; 46% were male and 54% female. Mean age was 49 years (range 14–89) and 4% were deceased. Eighty-five percent had confirmed MEN1 mutations and 2...