Searchable abstracts of presentations at key conferences in endocrinology

ea0051p050 | Pituitary and growth | BSPED2017

Siblings with 3-M Syndrome show good response to Growth Hormone (GH) therapy over a 4 year follow-up growth data

Mohamed Zainaba , Sachdev Pooja , Benson Joanna , Hastings Richard , Randell Tabitha , Denvir Louise

Introduction: 3M syndrome is a rare autosomal recessive condition that causes short stature, unusual facial features and skeletal abnormalities with normal intelligence. Mutations in CUL7, OBSL1 and CCDC8 genes have been identified as pathogenic. GH treatment outcomes for 3M syndrome appear controversial. Use of human recombinant GH for the treatment of short stature has been trialled in previous studies with some suggesting dysregulation in GH/IGF1 axis while others report no...