Short stature refers to a height less than two standard deviations below the mean for a given age and gender. The effective investigation of short stature pathology in children combines clinical assessment, to view symptoms and bodily dysfunctions; endocrine assessment, to determine hormone levels and sensitivity; and increasingly advanced genetic analysis. Many children of short stature do not have an identified underlying pathology, thus assigned as having idiopathic short stature (ISS). Consequently, the ISS population can be subdivided into those with ‘normal variants’ of growth, termed familial short stature (FSS) and non-familial short stature (NFSS), including constitutional delay of growth and puberty (CDGP). These categories can then separate from that of children with ISS who show a different etiology.