Endocrine Abstracts

Background: SOX3, a member of the SOXB1 subfamily of transcription factors, is a single-exon gene located on the X-chromosome and expressed in neuroepithelial and progenitor cells from the earliest stages. In mice, its expression in the infundibulum is important for the correct induction of Rathke’s pouch morphogenesis, with loss of function resulting in defects of CNS midline structures, teeth misalignment and variable hypopituitarism. We have previously demonstra...

Background: A polymorphism of the GHR gene, deletion of exon 3 (d3 GHR), has been associated with improved growth response to GH in some studies. We investigated the effect of this polymorphism across several diagnoses, evaluating parameters of growth outcome from a single institution (Manchester) and combined these with those derived from the literature using meta-analytical approaches.Methods: GHR genotype was assessed by PCR and related to clinical an...