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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
Bone density and skeletal turnover in complete androgen insensitivity syndrome
Milena Jovanovic1, Alexandra Laufer1, Deborah Stein1
1Section on Adolescent Bone and Body Composition, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Context:
Complete androgen insensitivity syndrome (CAIS) is a rare disorder caused by androgen receptor mutations. Due to malignancy concerns, patients historically underwent early gonadectomy, a practice that has come under scrutiny. Data on bone health are limited, especially considering adolescents with intact gonads and after gonadectomy.
Objective:
This work aimed to investigate bone mineral density (BMD), lean body mass (LBM), and bone turnover in CAIS with intact gonads or after gonadectomy.
Methods:
Dual-energy x-ray absorptiometry was used to assess BMD and LBM. Serum bone biomarkers and reproductive hormones were measured.
Results:
Seventeen individuals with CAIS were evaluated, 5 (mean age 27 years) after gonadectomy and 12 (mean age 18 years) with intact gonads. BMD Z-scores trended lower than reference standards, regardless of gonadectomy status. In participants with intact gonads, LBM was positively correlated with spinal BMD Z-score. Procollagen 1 N-terminal propeptides were higher in participants with intact gonads, while osteocalcin levels were lower. There were increased luteinizing hormone and testosterone levels, and decreased estradiol and estrone levels in those with intact gonads. In participants after gonadectomy, BMD Z-scores trended lower. LBM was positively correlated with BMD Z-score at the femoral neck and exercise score with BMD Z-score at the total hip.
Conclusion:
These findings raise concern that low BMD represents a health risk in all individuals with CAIS, including those with intact gonads and after gonadectomy. Bone remodeling was affected negatively but there was a positive correlation between LBM and BMD. These results underscore the importance of androgens for musculoskeletal health.
Insights
Bone mineral density (BMD) is a concern for individuals with complete androgen insensitivity syndrome (CAIS), regardless of gonadectomy status. Androgen deficiency negatively impacts bone health and lean body mass (LBM) in CAIS patients.
Area of Science:
- Endocrinology
- Bone Metabolism
- Genetics
Background:
- Complete androgen insensitivity syndrome (CAIS) is a rare genetic disorder affecting androgen receptor function.
- Historical gonadectomy practices in CAIS patients due to malignancy concerns are being re-evaluated.
- Limited data exist on bone health in CAIS, particularly in adolescents and post-gonadectomy.
Purpose of the Study:
- To investigate bone mineral density (BMD), lean body mass (LBM), and bone turnover in individuals with CAIS.
- To compare bone health parameters between CAIS patients with intact gonads and those who have undergone gonadectomy.
Main Methods:
- Dual-energy x-ray absorptiometry (DXA) was employed to assess BMD and LBM.
- Serum bone biomarkers and reproductive hormones were measured to evaluate bone turnover and hormonal status.
Main Results:
- BMD Z-scores were consistently lower than reference standards in CAIS patients, irrespective of gonadectomy.
- A positive correlation was observed between LBM and spinal BMD Z-scores in participants with intact gonads.
- Bone remodeling markers showed altered levels, with higher procollagen 1 N-terminal propeptides and lower osteocalcin in those with intact gonads.
Conclusions:
- Low BMD is a significant health concern for all individuals with CAIS, including those with intact gonads and post-gonadectomy.
- Androgen deficiency appears to negatively affect bone remodeling and musculoskeletal health in CAIS.
- Maintaining lean body mass is crucial for bone health in CAIS patients.
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