PE2.3 | Short Stature — Summary & Reflection

KEY TAKEAWAYS

Key takeaways from this module:

• Short stature = height-for-age < −2 SD; severe = < −3 SD. Growth velocity (<4 cm/yr prepubertal) is more important than a single measurement.
• Normal variants (FSS + CDGP) account for the majority of referred cases and require reassurance, not treatment. Distinguish by bone age (FSS = normal; CDGP = delayed) and family history.
• Pathological causes: endocrine (GHD, hypothyroidism, Cushing's), systemic (coeliac, CKD, CHD, HIV, TB), nutritional (PEM, zinc deficiency), skeletal dysplasia, chromosomal (Turner, Down, Noonan).
• Assessment sequence: growth chart (height + velocity) → MPH calculation → bone age → body proportions → targeted history/examination → investigations by clinical pattern.
• Key investigations: TSH/fT4, IGF-1, anti-tTG IgA (coeliac screen), karyotype (all girls with unexplained short stature), GH stimulation test (if GHD suspected), MRI pituitary.
• Treatment is cause-specific: rhGH 0.025–0.035 mg/kg/day SC for GHD; levothyroxine (weight-based) for hypothyroidism; nutritional rehabilitation + zinc for nutritional; Turner = high-dose rhGH + oestrogen.
• Always ask about exogenous steroid use — a missed cause of iatrogenic short stature.

REFLECT

Return to the opening case — the 10-year-old boy with height −2.5 SD, growth velocity 4.2 cm/yr, bone age 8 years, normal IGF-1, and a father who was a 'late bloomer.'

1. Having worked through this module, what is your diagnosis and what is the single most important message to communicate to this family today?
2. At what point would you consider a follow-up visit essential, and what specific measurement would trigger a reassessment of your diagnosis?
3. This module framed short stature as requiring a 'cost-effective' approach rather than a blanket investigation panel. Reflect on how you will decide, in practice, when to investigate and when to reassure. What clinical features would shift your threshold?
4. A colleague argues that every short child should receive rhGH to 'maximise their potential.' How would you respond, drawing on this module's evidence base?