Pituitary hypoplasia, or incomplete growth of the pituitary gland, causes hormone deficiencies in humans. One form is caused by a mutation in the SOX2 gene, resulting in eye abnormalities, short stature, hearing loss, digestive problems, and learning difficulties. SOX2 is broadly involved in embryonic development. To determine exactly how Sox2 influences development of the pituitary gland, researchers at University College London studied the development of mice that lost SOX2 at different points in development.
In a study published in the Journal of Clinical Investigation, Juan Martinez-Barbera and colleagues report that loss of SOX2 results in a loss of neural precursor cells, which are required for the development of the cells that make growth hormones and trigger their release into the blood stream. By determining exactly what goes wrong when SOX2 is missing, these studies provide a better understanding of human pituitary hypoplasia.
“SOX2 regulates the hypothalamic-pituitary axis at multiple levels” Juan Pedro Martinez-Barbera, University College London, London, UNK, GBR
Journal of Clinical Investigation Sept. 4, 2012