Human growth starts at conception and proceeds through various identifiable developmental stages. The process of growth depends on both genetic and environmental factors that combine to determine an individual's eventual height. The genetic control of statural growth is becoming increasingly clear. Many genes have been identified that are required for normal development and function of the pituitary in general, and that control the growth hormone/insulin-like growth factor axis in particular. Mutations of these genes have been shown to be responsible for abnormal growth in humans and animals.
Growth hormone has been used to treat short children since the 1950’s. Initially only those children with the most pronounced growth failure due to severe growth hormone deficiency (GHD) were considered appropriate candidates, but with time children with growth failure from a range of conditions have been shown to benefit from GH treatment. GH has also been used to treat several catabolic processes, including cystic fibrosis, inflammatory bowel disease and AIDS wasting. Here we review the physiology of growth, the diagnosis of GH deficiency, treatment options and genetic growth hormone disorders.