Bone microarchitecture and strength in men and women with PLS3 gene variants assessed with high-resolution peripheral quantitative computed tomography (HR-pQCT)
Authors' conclusion
In conclusion, HR-pQCT provides valuable insights into bone area, BMD, microarchitecture, and strength in adults with PLS3 variants and can be used to explore genotype-phenotype relationships.
Study context
- Population
- Adults with X-linked osteoporosis due to PLS3 variants; median age 46 yr (men), 48 yr (women)
- Participants
- 13 vs 3
- Exposure
- Adults with PLS3 variants vs age- and sex-matched normative data
- Menn = 13
- Womenn = 3
- Outcome
- Bone microarchitecture and strength by HR-pQCT (Z-scores vs normative data)
Methodological detailsHR-pQCT of distal radius and tibia, age- and sex-matched normative dataset from literature, Z-scores
- HR-pQCT of distal radius and tibia
- Age- and sex-matched normative dataset from literature
- Z-scores
Main finding
As reported in the abstract
HR-pQCT Z-scores in men (median; radius; tibia)
- Total bone area (radius; tibia)
- 1.33; 1.46
- Trabecular area (radius; tibia)
- +1.73; +1.87
- Cortical area (radius; tibia)
- −2.61; −2.84
- Trabecular bone mineral density (BMD) (radius; tibia)
- −3.46; −3.37
- Cortical BMD (radius; tibia)
- −2.87; −2.26
- Trabecular number (radius; tibia)
- −2.18; −1.64
- Trabecular separation (radius; tibia)
- +2.32; +1.65
- Cortical thickness (radius; tibia)
- −2.99; −2.46
- Trabecular thickness, normal (radius; tibia)
- −0.36; 0.09
- Cortical porosity, normal (radius; tibia)
- −0.58; −0.79
- Failure load (radius; tibia)
- −2.39; −2.2
Observational data: associations, not effects.
Further findings
Women
- Results in the women deviated less from normative data
Genotype-phenotype in men
- Frameshift/nonsense variants seemed to have more deviant trabecular and cortical microarchitecture and strength at both sites than missense/in-frame insertion variants
Original publication
Bone microarchitecture and strength in men and women with PLS3 gene variants assessed with HR-pQCT. J Bone Miner Res. Published 10 December 2024. doi:10.
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