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Updated: Jun 2, 2026
Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
Bone mineral density is normal in children with Fanconi anemia
Susan R Rose1, Meilan M Rutter, Robin Mueller
1Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA. Susan.Rose@cchmc.org
Insights
Children with Fanconi anemia (FA) generally have normal bone mineral density (BMD) when adjusted for height, even before and after hematopoietic stem cell transplant (HCT). Bone maturation adjustment was not useful for assessing BMD in FA patients.
Area of Science:
- Pediatric Endocrinology
- Hematology
- Bone Metabolism
Background:
- Conflicting data exist regarding the association between low bone mineral density (BMD) and Fanconi anemia (FA).
- This study aimed to determine the prevalence of low BMD in FA patients, anticipating potential deficits in childhood and pre-hematopoietic stem cell transplant (HCT).
Purpose of the Study:
- To identify the frequency of low bone mineral density (BMD) in children and adolescents with Fanconi anemia (FA).
- To assess BMD before and after hematopoietic stem cell transplant (HCT) and evaluate the impact of height age and bone maturation adjustments.
Main Methods:
- Thirty-seven FA patients (18 post-HCT, 19 pre-HCT) underwent DXA scans for lumbar spine BMD.
- BMD Z-scores were adjusted for height age and bone maturation (BA).
- Data on height, pubertal stage, and time since HCT were collected. Glucocorticoid and androgen use were noted.
Main Results:
- Unadjusted BMD Z-scores were below -1 SD in half of the FA children.
- Height age-adjusted BMD Z-scores were normal in most FA patients, with one exception after prolonged glucocorticoid use.
- Bone maturation (BA)-adjusted BMD Z-scores were similar to unadjusted scores and not clinically informative.
Conclusions:
- Children and adolescents with FA exhibit normal BMD when DXA results are adjusted for bone size/height age, both before and after HCT.
- Adjustment for bone maturation (BA) was not beneficial for assessing BMD in this FA cohort.
- Individual BMD may be affected by gonadal function, transplant status, and prolonged glucocorticoid therapy.
Background:
Conflicting data exist regarding whether low bone mineral density (BMD) is associated with Fanconi anemia (FA). The current study identified the frequency of low BMD in FA, expecting low BMD even in childhood and before HCT.
Procedure:
Thirty-seven FA patients (18 prior HCT, 19 no prior HCT), participating in an IRB-approved database, had clinical assessment of DXA of lumbar spine BMD. Four had used androgens, one later underwent HCT. Most had used glucocorticoids after HCT (prolonged in five), and one more with no HCT. BMD [in standard deviation units from mean for age (SD), gender, and ethnicity (BMD Z-score)] was then adjusted for height age, and separately for bone maturation (BA). Data were collected for height SD, pubertal stage, and duration since HCT.
Results:
BMD Z-score (without adjustment) was <-1 SD in half of FA children. BA-adjusted BMD Z-score was similar. (BA was not usually delayed, although most patients were short.) In contrast, height age-adjusted BMD Z-score was normal in most with FA (only below -2.0 in one child after prolonged glucocorticoids). Mean duration after HCT until DXA test was 6.2 years (median 4.2 years, range 1-18 years).
Conclusions:
Children and adolescents with FA have normal BMD prior to and after HCT, when DXA results are adjusted for bone size/height age. In contrast, BA-adjustment of BMD was not useful in this population. Individual BMD results may be influenced by gonadal function, transplantation status, and prolonged glucocorticoid therapy.
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