SOX3 and hypopituitarism: In humans, SOX3 mutations and duplications are associated with X-linked hypopituitarism, a congenital male-specific syndrome that is characterized by pituitary hormone deficiency, infundibular hypoplasia, and incompletely penetrant mental retardation (Laumonnier et al. 2002; Solomon et al. 2002; Woods et al. 2005).