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A case of pycnodysostosis with growth hormone deficiency
1Department of Pediatrics, Ege University, Faculty of Medicine, Izmir, Turkey.
Insights
Pycnodysostosis, a rare skeletal disorder causing short stature, was treated with growth hormone (GH) in a patient with GH deficiency. This novel treatment showed a positive height response, suggesting potential therapeutic benefits.
Area of Science:
- Pediatric Endocrinology
- Skeletal Dysplasias
- Genetics and Rare Diseases
Background:
- Pycnodysostosis is a rare autosomal recessive skeletal disorder characterized by osteosclerosis, short stature, and bone fragility.
- Growth hormone (GH) deficiency can exacerbate short stature in various conditions, but its role and treatment in pycnodysostosis are not well-documented.
Observation:
- A case of pycnodysostosis presenting with significant short stature and confirmed growth hormone deficiency (GHD) was identified.
- The patient exhibited low insulin-like growth factor 1 (IGF-1) levels, consistent with GH deficiency.
Findings:
- Pharmacological provocative tests (insulin and L-dopa) confirmed complete GH deficiency.
- GH replacement therapy resulted in a significant and positive height-velocity response, indicating efficacy in this patient.
Implications:
- This is the first reported case of pycnodysostosis treated with GH replacement therapy for co-existing GH deficiency.
- The findings suggest that GH therapy may be a viable treatment option for improving linear growth in pycnodysostosis patients with documented GH deficiency.
- Further research is warranted to establish optimal treatment protocols and long-term outcomes for GH therapy in pycnodysostosis.
Abstract:
Pycnodysostosis is a skeletal dysplasia characterized by short stature. Treatment of pycnodysostosis with growth hormone (GH) has not been reported so far. We describe a case of pycnodysostosis with growth hormone deficiency in addition to low mean insulin-like growth factor 1 (IGF-1) concentration. Complete GH deficiency was determined by two pharmacological provocative tests (insulin and L-dopa). A good height-velocity response was obtained after GH replacement treatment. Pycnodysostosis with GH deficiency and replacement therapy have not been reported previously, to the best of our knowledge.