Searchable abstracts of presentations at key conferences in endocrinology

ea0044ep36 | (1) | SFEBES2016

Periodic episodes of weakness over 7 years

Dales Jolyon , Vasudevan Pradeep , Kong Marie-France

A 24-year-old traffic warden was initially referred to the neurology department with episodes of “funny turns” over the past 7 years. Without warning she would become dizzy and lightheaded with blurring of vision and weak legs. These symptoms would resolve after ingesting something sweet but the relief of her symptoms was not immediate. The episodes could happen at any time of the day but never first thing in the morning and could happen several times a week. She rep...

ea0024p24 | (1) | BSPED2010

Short stature with deletion of chromosome 15q and duplication of 16q (q26.3:q23.1)

Ho S , Vasudevan P , Madira W , Greening J

Introduction: The IGF1-receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (bands q26.3). Short stature due to mutation or deletion of IGF1R gene is rare. Mutation of this gene is better known compared to deletion as a cause of growth hormone resistance. We report a girl with pre and postnatal growth failure with chromosome 15q deletion and 16q duplication.Case report: Our patient was born at term weighing 2.7 kg (2nd centile). She w...