Endocrine Abstracts

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...