Searchable abstracts of presentations at key conferences in endocrinology

ea0027p28 | (1) | BSPED2011

Prophylactic thyroidectomy in children with MEN2 in the United Kingdom

Prete Francesco Paolo , Morkane Clare , Watkinson J , Shaw N , Alvi S , Squire R , Harrison B , Wales J , Clayton P , Morrison P , Carson D , Brain C , Hindmarsh P , Dattani M , Spoudeas H , Buchanan C , Albanese A , Amin R , Piero A , Kurzawinski T

Introduction: Timing, extent, complications rate and long term results of paediatric prophylactic thyroidectomy (pPT) for MEN2 in the UK are unknown.Methods: All UK centers performing pPT were invited to participate in the study.Data were obtained from notes and hospitals electronic databases.Results: Fifty-one children (27 males) were included.All had genetic test at the mean age of 5 years (median 3, range 0.25–15), confirmi...

ea0010p40 | Endocrine tumours and neoplasia | SFE2005

The RET mutation E768D confers a late onset FMTC-only phenotype with incomplete penetrance

McCall D , Dabir T , Russell C , Morrison P , Hunter S

Mutations of the RET proto-oncogene are associated with MEN and FMTC and aid diagnosis and predictive testing in family members. Genotype-phenotype correlations are also used to plan therapeutic decisions. We describe a 4 generation family with a rare E768D mutation in exon 13. The index case was diagnosed with MTC at age 54 and remains free of clinical disease 11 years following thyroidectomy and neck irradiation. 2 further family members were identified with MTC at age 25 an...

ea0038p311 | Pituitary | SFEBES2015

The burden of AIP mutations in pituitary adenoma patients from the UK

Caimari F , Dang M N , Gabrovska P , Hernandez-Ramirez L C , Stals K , Bussell A M , Cranston T , Karavitaki N , Kumar A V , Hunter S , Kearney T , Trainer P J , Izatt I , Bevan J , Quinton R , Grieve J , Baldeweg S E , Grossman A B , Morrison P , Korbonits M

Introduction: Familial isolated pituitary adenoma (FIPA) and young-onset sporadic pituitary adenoma patients are suggested to be screened for mutations in AIP, a gene described in 2006 and amenable to UK testing since 2008.Methods: affected subjects have been tested in Exeter and Oxford genetic laboratories. Data were collected from 120 FIPA-families and 193 sporadic cases with young-onset disease (<30y) from 49 centres in the UK. The Mann&#...