According to current guidelines (7) the diagnosis of GHD in newborns is possible in the presence of GH concentrations ≤5 ng/mL in a newborn with additional pituitary hormone deficiencies or/and the triad of ectopic posterior pituitary, pituitary hypoplasia and abnormal pituitary stalk (Table 1). The gene discussed is GH1; the disease is hypopituitarism.