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Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis
Judith S Renes, Theo C J Sas1,2, Agnes Clement-de Boers3,4
1Dutch Growth Research Foundation, Rotterdam, The Netherlands.
Insights
Growth hormone (GH) treatment in pycnodysostosis patients may prevent height decline. This study evaluated GH safety and efficacy in six children, showing stable or improved height standard deviation scores without serious adverse events.
Area of Science:
- Pediatric Endocrinology
- Skeletal Dysplasias
- Genetics and Rare Diseases
Background:
- Pycnodysostosis is a rare skeletal disorder caused by cathepsin K deficiency, leading to severe short stature.
- Adult height in males is typically <150 cm and in females <130 cm.
- Evaluating growth hormone (GH) efficacy and safety in pycnodysostosis patients is crucial.
Observation:
- Six pycnodysostosis patients (4 boys, 2 girls) received GH treatment (1.4 mg/m²/day) for at least one year.
- Median age at treatment initiation was 10.4 years, with a median height SDS of -4.2.
- All patients were prepubertal at the start of GH therapy.
Findings:
- After one year, median height gain was 7.6 cm (0.3 SDS).
- Three patients reached final adult height, with one boy reaching 157.0 cm and two girls reaching 138.5 cm and 148.0 cm.
- Height SDS remained stable or improved during and after GH treatment; no serious adverse events were reported, and serum IGF-I levels stayed below +2 SDS.
Implications:
- GH treatment may be a viable strategy to prevent height decline in children with pycnodysostosis.
- Further research is needed to confirm these findings and explore adjunct therapies like GnRH analogues.
- This study provides valuable insights into managing growth in this rare skeletal dysplasia.
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.
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