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rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency
Federico G Hawkins-Carranza1, María T Muñoz-Calvo2,3,4, Gabriel Á Martos-Moreno2,3,4
1Diabetes and Bone Research Group, Institute i+12, Complutense University and Hospital 12 de Octubre, Madrid, Spain.
Insights
Recombinant human insulin-like growth factor-1 (rhIGF-1) therapy improved growth, bone mineral density (BMD), and bone microstructure in two children with PAPP-A2 deficiency. The treatment also positively modulated body composition without adverse effects.
Area of Science:
- Pediatric Endocrinology
- Skeletal Biology
- Metabolic Disorders
Background:
- PAPP-A2 deficiency is a rare genetic disorder characterized by short stature and impaired bone development.
- Recombinant human insulin-like growth factor-1 (rhIGF-1) is a therapeutic agent used to treat growth failure.
Observation:
- Two prepubertal children with homozygous PAPP-A2 mutations and complete PAPP-A2 deficiency were treated with rhIGF-1 for two years.
- Dual-energy X-ray absorptiometry (DXA) was used to assess bone mineral density (BMD), trabecular bone score (TBS), and body composition at baseline and annually.
Findings:
- rhIGF-1 treatment resulted in significant height increase in both patients.
- Bone mineral content and whole-body BMD increased after one and two years of rhIGF-1 therapy.
- Improvements in TBS and body composition, including lean and fat mass, were observed.
- No adverse effects were reported during the treatment period.
Implications:
- rhIGF-1 therapy is a viable treatment option for improving growth and bone health in children with PAPP-A2 deficiency.
- Further research is warranted to fully elucidate the long-term effects of rhIGF-1 on bone microarchitecture and body composition in this patient population.
Aim:
Our objective was to determine changes in bone mineral density (BMD), trabecular bone score (TBS), and body composition after 2 years of therapy with recombinant human insulin-like growth factor-1 (rhIGF-1) in 2 prepubertal children with a complete lack of circulating PAPP-A2 due to a homozygous mutation in PAPP-A2 (p.D643fs25*) resulting in a premature stop codon.
Methods:
Body composition, BMD, and bone structure were determined by dual-energy X-ray absorptiometry at baseline and after 1 and 2 years of rhIGF-1 treatment.
Results:
Height increased from 132 to 145.5 cm (patient 1) and from 111.5 to 124.5 cm (patient 2). Bone mineral content increased from 933.40 to 1,057.97 and 1,152.77 g in patient 1, and from 696.12 to 773.26 and 911.51 g in patient 2, after 1 and 2 years, respectively. Whole-body BMD also increased after 2 years of rhIGF-1 from baseline 0.788 to 0.869 g/cm2 in patient 1 and from 0.763 to 0.829 g/cm2 in patient 2. After 2 years of treatment, both children had an improvement in TBS. During therapy, a slight increase in body fat mass was seen, with a concomitant increase in lean mass. No adverse effects were reported.
Conclusion:
Two years of rhIGF-1 improved growth, with a tendency to improve bone mass and bone microstructure and to modulate body composition.
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