Searchable abstracts of presentations at key conferences in endocrinology

ea0025p174 | Endocrine tumours and neoplasia | SFEBES2011

Low rate of recurrence after excision of non-familial phaeochromocytomas

Russell Sophie , Mihai Radu , Walker Lisa , Sadler Gregory , Wass John

Background: Phaeochromocytomas (PHAEO) and paragangliomas (PGGL) are rare neuroendocrine tumours. The traditional ‘10%’ teaching mnemonic has recently been challenged.Methods: Clinical and biochemical/pathological data were collected prospectively. A 24-h urine sample for metanephrine assay was used for postoperative biochemical follow-up.Results: Between ‘Jan 89 and June 10’ 110 patients were operated for PHAEO...

ea0021oc4.1 | Bone and parathyroid | SFEBES2009

Multiple endocrine neoplasia type 1 (MEN-1) mutation analysis in patients with primary hyperparathyroidism under the age of 40 years

Mihai Radu , Sadler Gregory , Walker Lisa , Thakker Rajesh

Background: Primary hyperparathyroidism (PHPT) is commonly diagnosed after the fifth decade of life. Current guidelines suggest that young patients with apparently sporadic PHPT should be screened as potential index cases for the multiple endocrine neoplasia type 1 (MEN-1) syndrome.Aim: To determine the prevalence of mutations in the MEN1 gene in young patients presenting with apparently sporadic PHPT before the age of 40 years.Met...

ea0025p192 | Endocrine tumours and neoplasia | SFEBES2011

Familial adrenocortical carcinoma associated with HNPCC

Kandasamy Narayanan , Nik-Zainal Serena , Annamalai Anand Kumar , Walker Lisa , Happerfield Lisa C , Arends Mark J , Patterson Joan , Gurnell Mark

We report the first case of familial adrenocortical carcinoma (ACC) in association with hereditary non-polyposis colorectal cancer (HNPCC) in a family with a MSH2 germline mutation.HNPCC, an autosomal dominant disorder caused by mutations in one of the DNA mismatch repair (MMR) genes, is the commonest cause of hereditary colon carcinoma, and is associated with an increased risk of certain non-colonic cancers (e.g. endometrial, ovarian, urin...

ea0015oc1 | Young Endocrinologist prize session | SFEBES2008

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B gene mutation carriers

Srirangalingam Umasuthan , Walker Lisa , Khoo Bernard , MacDonald Fiona , Gardner Daphne , Wilkin Terence J , Skelly Robert H , George Emad , Spooner David , Monson John P , Grossman Ashley B , Akker Scott A , Pollard Patrick J , Plowman Nick , Avril Norbert , Berney Dan M , Burrin Jacky M , Reznek Rodney , Ajith Kumar VK , Maher Eamonn R , Chew Shern L

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....