Searchable abstracts of presentations at key conferences in endocrinology

ea0017oc5 | Endocrinology 2 | BSPED2008

Changes in the polyalanine tract in SOX3 is a rare cause of hypopituitarism

Alatzoglou KS , Kelberman D , Cowell C , Arnhold IJP , Grueters A , Dattani MT

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...