Short Stature in Children

Background

• Short stature is generally defined as height > 2 standard deviations below the population mean for age and gender.
• It is the result of a reduction in normal linear growth (height velocity), which may occur continuously during childhood or during a limited time period (including prenatally).
• The differential diagnosis is wide-ranging, but most short stature represents a normal variant, such as familial short stature, constitutional delay of growth and puberty, or idiopathic short stature.
• Only about 5% of children referred for evaluation have an identifiable pathologic etiology, such as a chronic underlying condition, an endocrine disorder, or a genetic syndrome.

General Evaluation

• A short stature evaluation should be considered in children with height > 2 standard deviations below population mean for age and gender and/or abnormally low height velocity (< 5 cm/year is generally considered abnormal from age 5 years until puberty).
• The evaluation should be directed toward identifying or excluding a pathologic etiology.
  • The clinical evaluation should include assessments of growth pattern, pubertal stage, and parental height.
  • Children with symptoms, dysmorphic features, or disproportionate short stature should have testing and referrals based on the clinical presentation and suspected underlying disorder.
  • In asymptomatic children with proportionate short stature and no dysmorphic features, consider the following diagnostic testing:
    • x-ray for bone age
    • blood tests, including:
      • complete blood count and metabolic panel
      • thyroid function tests
      • celiac screen
      • insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein (IGFBP-3)
      • inflammatory markers
      • nutrition screen (vitamin D, zinc)
    • urinalysis
    • genetic testing (Consider especially in girls, because Turner syndrome may present with minimal dysmorphic features.)
• In children with abnormal test results, perform additional testing or refer to specialist as indicated based on findings.
• Consider referral to pediatric endocrinologist if no cause is identified.

Management

• Management depends on the underlying cause.
• For normal variants such as familial short stature and constitutional delay of growth and puberty (CDGP), consider watchful waiting, with referral to pediatric endocrinologist if growth or pubertal development is not as expected. Sex hormone therapy may also be considered in some children with CDGP.
• For short stature due to a chronic condition, treat the underlying disorder.
• Consider referral to pediatric endocrinologist for conditions which may be amenable to pharmacologic interventions, for example:
  • growth hormone therapy may be considered for:
    • growth hormone deficiency
    • idiopathic short stature
    • small for gestational age with failure of catch-up growth.
    • Turner syndrome
    • Noonan syndrome
    • Prader-Willi syndrome
    • short stature homeobox-containing (SHOX) gene deficiency
    • chronic kidney disease
  • Insulin-like growth factor 1 (IGF-1) therapy may be considered for disorders of growth hormone resistance such as primary insulin-like growth factor deficiency.