Patient P3, carrying the novel c.557T>G p.(Leu186Arg) variant, was diagnosed in the neonatal period with symptoms including constipation, prolonged neonatal jaundice, pituitary dwarfism, anterior pituitary hypoplasia, and low levels of IGF1, TSH, FT4, GH, and PRL. This evidence concerns the gene GH1 and pituitary dwarfism.