Searchable abstracts of presentations at key conferences in endocrinology

ea0024p4 | (1) | BSPED2010

Neonatal adrenal suppression from maternal steroid use: A retrospective case note study

Ho S , Petkar R , Avatapalle B , Coombs R

Introduction: Infants born to mothers on antenatal steroid medication may develop adrenal suppression postnatally which can be potentially life-threatening. However, the incidence is unknown and screening for at risk infants is not universal.Aim: The aim of our study was to review the outcome of infants born to mothers on antenatal steroids.Method: We retrospectively reviewed our neonatal “paediatric alerts” for mothers o...

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...