Treatment for Short Stature Due to Growth Hormone Deficiency
For confirmed growth hormone deficiency (GHD), recombinant human growth hormone (rhGH) replacement therapy is the established and only recommended treatment, administered as daily subcutaneous injections throughout the growth period until epiphyseal closure. 1, 2
Confirming the Diagnosis
Before initiating treatment, GHD must be properly confirmed through:
- Provocative GH stimulation testing showing peak stimulated GH values <5 μg/L, which is the most definitive primary criterion for GHD 3
- Bone age assessment via left wrist radiography to determine remaining growth potential 4, 5
- Exclusion of other treatable causes including hypothyroidism, Turner syndrome (in girls), nutritional deficiencies, and systemic diseases 4, 5, 6
- Documentation of poor growth velocity (typically <4 cm/year during childhood) and height below the 3rd percentile 7, 3
Growth Hormone Replacement Therapy
Treatment Protocol
- Daily subcutaneous injections are required, as GH therapy necessitates consistent administration over many years 1
- Dosing regimens have evolved from traditional 2-4 injections per week to current daily protocols, which show superior outcomes 8
- Treatment duration continues throughout the growth period until height velocity drops below 2 cm/year and/or epiphyseal growth plates close on radiography 4, 7
Expected Outcomes
The response to GH therapy in confirmed GHD is substantial:
- Untreated GH-deficient children with spontaneous puberty reach a mean final height of 4.7 SD below population mean 8
- With traditional GH regimens, final height improves to approximately -2.8 SD in those with spontaneous puberty and -1.6 SD in those requiring induced puberty 8
- Mean gain in final height ranges from 1.5-2.0 SD in average cases, with gains up to 3.5 SD in extreme cases 8
- Growth rate during treatment increases 3.4-fold compared to pretreatment rates in GH-deficient children 3
- Current regimens suggest mean final height may approach target height 8
Monitoring During Treatment
- Regular growth velocity measurements every 3-6 months to assess treatment response 4
- Bone age assessments periodically to track skeletal maturation and predict remaining growth potential 4, 5
- Fundoscopic examination before initiating therapy to rule out papilledema 4
- Thyroid function monitoring as GH therapy can unmask central hypothyroidism 9
Critical Pitfalls to Avoid
- Do not withhold treatment in confirmed GHD while waiting for "natural growth"—untreated GH-deficient children have severely compromised final height outcomes 8
- Ensure adherence to daily injections, as the requirement for long-term parenteral therapy can significantly affect compliance 1
- Re-evaluate GH secretion during the transition phase at the end of longitudinal growth, as some patients may require continued therapy into adulthood 1
- Distinguish true GHD from other causes of short stature, as children with constitutional delay or familial short stature have different treatment considerations and outcomes 3, 8
Special Considerations
For patients with associated hormone deficiencies (such as in 22q11.2 deletion syndrome), GH therapy responds well when GHD is documented, but other endocrinopathies must be addressed concurrently 9
Treatment is both effective and safe when properly indicated for confirmed GHD, with over 50 years of clinical experience supporting its use 1, 2