Searchable abstracts of presentations at key conferences in endocrinology

ea0011p50 | Clinical case reports | ECE2006

Recurrent congenital neonatal hyperthyroidism in a mother with Graves’ disease (post radio-ablation) on thyroxine replacement

Kumar J , Rajendran P , Lapworth R , Buchanan C , Williams C

Thyroid dysfunction is not uncommon in pregnancy and is associated with various maternal, foetal and neonatal complications. We report the occurrence of neonatal hyperthyroidism in two successive pregnancies in a post radio-ablation mother with Graves’ disease who is on thyroxine replacement.Mother: A 30-year-old lady, treated for Graves’ thyrotoxicosis with radioiodine 10 years ago, was on thyroxine 100 mcg replacement for hypothyroidism. She ...

ea0019oc25 | Bone and Calcium | SFEBES2009

Genome-wide abnormalities in parental inheritance patterns and DNA methylation in Russell–Silver syndrome

Dias R , Bogdarina I , Johnston L , Buchanan C , Savage M , Hokken-Koelega A , Clark A

Background: Russell–Silver syndrome (RSS) is a heterogeneous condition characterised by pre- and post-natal growth retardation in association with variable dysmorphic features including triangular facies and body asymmetry. The condition has previously been linked to 2 genetic abnormalities: aberrant methylation at the 11p15.5 locus in 30–40% and maternal uniparental disomy (UPD) of chromosome 7 in 10% of cases. Up to 50% of children currently have no identified (epi...

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...