Summary: Short stature is one of the most common reasons for referral to a pediatric endocrinologist. It is defined as a height that is ¬2 standard deviations (SD) or more below the mean height for individuals of the same sex and age, or as height that is below the 3rd percentile. In most patients, short stature is a normal variant of growth, caused either by constitutional delay of growth and puberty (CDGP) or familial short stature, and does not require treatment if other causes of impaired growth have been excluded. Diagnostics of growth impairment consists of subjective examination including family history, physical examination with precise anthropometric measurements and laboratory and imaging tests. The scope of diagnostics should be adjusted depending on abnormalities found during subjective and objective assessment. Initially, it is necessary to exclude chronic conditions associated with growth impairment, such as gastrointestinal tract, kidney or endocrine system diseases. Among endocrine causes, the most common disease is hypothyroidism, other frequent causes of short stature include hypercortisolism, disorders of sexual development and growth hormone deficiency (hypopituitarism). In some children, despite careful diagnostics, it is not possible to determine the causes of growth impairment (idiopathic short stature).
In Poland growth hormone substitution therapy is reimbursed for children with short stature caused by hypopituitarism or chronic kidney disease, children born too small for gestational age and girls with Turner’s syndrome. The diagnosis of Prader-Willi syndrome is an indication for growth hormone substitution therapy in children and adults. Early detection and diagnostics of abnormal growth patterns is necessary for the implementation of appropriate therapeutic procedures and ultimately gives the opportunity to achieve final growth consistent with the child’s genetic height potential.