Normal Variant and Idiopathic Short Stature

This chapter reviews idiopathic short stature (ISS) and normal variant short stature comprised of familial short stature (FSS) and constitutional delay of growth and puberty (CDGP). FSS and CDGP are physiologic variants of short stature without an organic cause. Although ISS is not considered a “normal variant” of short stature, it also does not have an underlying pathological etiology. A child with short stature requires a comprehensive history and physical examination and consideration for diagnostic studies prior to establishing these nonpathological causes of short stature. Once a diagnosis of normal variant short stature or ISS is established, ongoing monitoring of auxologic parameters throughout childhood and adolescence is indicated. The Food and Drug Administration’s approval of growth hormone (GH) for ISS triggered considerable debate regarding the cost–benefit ratio and ethical considerations of treating children with GH for nonpathological short stature. The treatment of normal variant short stature and ISS should be individualized for each child.