The integrity of the GHRH-GH-IGF-I axis is important for normal growth. Mutations in genes involved in any of the steps result in short stature. Disorders of this axis can be divided in: 1) GH deficiency combined with deficiencies of other pituitary hormones due to alterations in transcription factors involved in pituitary organogenesis (HESX1/RPX, LHX3 e LHX4, PROP-1, PIT-1); 2. Isolated GH deficiency (GHRH receptor, GH-1, bioinactive GH); and 3. GH insensitivity (GH receptor, IGF-I gene and IGF-I receptor). Genes involved […]