LHX4 and Short stature - pituitary and cerebellar defects - small sella turcica: 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].