Normal Variant and Idiopathic Short Stature

Abstract

This chapter reviews normal variant short stature, comprised of both familial short stature (FSS) and constitutional delay of growth and puberty (CDGP), as well as idiopathic short stature (ISS). FSS and CDGP are physiologic variants of short stature without an organic cause. Although ISS is not a “normal variant” of short stature, as with FSS and CDGP it 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 non-pathological causes of short stature. Once a diagnosis of either a normal variant short stature or ISS is established, then ongoing monitoring of auxologic parameters throughout childhood and adolescence is indicated. The Food and Drug Administration’s approval of growth hormone for ISS triggered considerable debate within the medical community in terms of costs, benefits, and the ethics of treating children with growth hormone for this form of non-pathological short stature. The treatment of normal variant short stature and ISS should be individualized for each child.