Endocrine Abstracts

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To assess STAT5B sequence in children selected for a phenotype suggestive of Stat5b deficiency. To further characterize genomic STAT5B variants in two families.Methods: Selection of children from a tertiary Paediatric Endocrine ...