Its heterozygous pathogenic variants are responsible for Pituitary Hormone Deficiency, Combined, 4, (CPHD4, MIM 262700), usually associated with pituitary stalk interruption syndrome (PSIS), a peculiar neuroradiological pattern due to an abnormal embryogenesis of the pituitary gland [24]. This evidence concerns the gene LHX4 and Combined pituitary hormone deficiencies, genetic forms.