ea0051p043 | Pituitary and growth | BSPED2017
Nambisan Aparna K.R.
, Kapoor Ritika
, Ajzensztejn Michal
, Hulse Tony
, Buchanan Charles R.
Introduction: Duplications of the SOX3 gene at Xq27.1 are known to be associated with a spectrum of forebrain midline defects, isolated or multiple pituitary hormone deficiencies, spina bifida and sometimes learning difficulties. We report three cases of SOX3 duplication with hypopituitarism and differing presentations.Case reports: 1) A male infant presented in neonatal period with poor feeding, prolonged jaundice, central hypothyroidism and inadequate ...