Peer-reviewed article
Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis
Judith S. Renes, Theo Sas, Agnes Clement-de Boers, Nitash Zwaveling‐Soonawala, Sabine Elisabeth Hannema et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study examines growth hormone treatment in six children with pycnodysostosis, a rare genetic disorder causing severe short stature. Children received growth hormone therapy for at least one year, starting at a median age of 10.4 years. The treatment resulted in an average height gain of 7.6 cm after one year, with no serious side effects observed. Three children completed treatment and reached final adult heights ranging from 138.5 to 157 cm, showing that growth hormone may help prevent the decline in height typical of this condition.
Key points
- Six children (4 boys, 2 girls) with pycnodysostosis received growth hormone treatment at median age 10.4 years
- Median height gain after 1 year of GH was 7.6 cm (range 6.5-8.5 cm)
- Three children reached adult height: one boy at 157.0 cm and two girls at 138.5 and 148.0 cm
- Height standard deviation scores remained stable or improved during treatment
- No serious adverse events were reported; serum IGF-I remained within safe limits
Limitations
This is a case series of only six children, which is too small to draw definitive conclusions about effectiveness. The study cannot determine optimal treatment duration, ideal dosing, or whether outcomes differ between demographic groups.
Abstract
INTRODUCTION: Pycnodysostosis is an extremely rare skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature with adult height (AH) in males typically less than 150 cm and in females less than 130 cm. Our objective was to evaluate the effect and safety of growth hormone (GH) treatment in 6 patients with pycnodysostosis treated according to the Dutch national pycnodysostosis guideline. CASE PRESENTATION: Six subjects (4 boys, 2 girls) presented with pycnodysostosis, treated with GH 1.4 mg/m2/day (∼0.046 mg/kg/day) for ≥1 year. Median (IQR) age at start of GH was 10.4 years (5.7; 12.2) and median height 113.5 cm (93.3; 129.3) (-4.2 SDS [-4.8; -3.6]). All children were prepubertal at start of GH. After 1 year of GH, median height gain was 7.6 cm (6.5; 8.5) (0.3 SDS [-0.3; 0.7]). Three children are still treated with GH, and the other three subjects reached AH: 1 boy reached an AH of 157.0 cm (-3.8 SDS) after 6.3 years of GH, and 2 girls reached an AH of 138.5 cm (-5.2 SDS) after 4.8 years of GH and 148.0 cm (-3.6 SDS) after 6.4 years of GH, respectively. This last girl received additional GnRH analogue treatment. In all subjects, height SDS remained stable or improved during and after GH treatment. No serious adverse advents were found. Serum IGF-I remained below the +2 SDS. CONCLUSION: Our data suggest that GH may prevent the decline in height which can be observed in children with pycnodysostosis. Further research is needed to confirm this. Also, the effect of other growth-promoting strategies such as treatment with an additional GnRH analogue warrants further investigation.
Findings the Hub has extracted
Each claim below is labelled by its type of design and links back to this report.
- Intervention
- Growth hormone treatment at 1.4 mg/m² per day for at least one year
- Population
- Six children (4 boys, 2 girls) with pycnodysostosis, all prepubertal, median age 10.4 years at treatment start
Key finding
Median height gain of 7.6 cm after 1 year of GH treatment