Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort
Authors' conclusion
In this case-control study of men with 47,XXY and 47,XYY syndromes, prevalence of SCA was comparable with estimates in the general population. While these men had successfully served in the military, they had higher morbidity and reported poorer HRQOL with aging. Longer longitudinal follow-up of this sample will be informative for clinical and patient-reported outcomes, the role of ancestry, and mortality statistics.
Study context
- Population
- Biological males enrolled in the Million Veteran Program (MVP) biobank, US Veterans Administration health care system, 2011–2022; mean (SD) age at assessment 61 (12) years
- Participants
- 595,612 genotyped males
- Exposure
- Men with 47,XXY or 47,XYY vs matched controls
- 47,XXYn = 862
- 47,XYYn = 747
- Outcome
- Prevalence of men with sex chromosome aneuploidy (SCAs) from genomic analysis
Methodological detailscase-control recruitment design, matched 1:5 with controls on sex, age and genetic ancestry
- Case-control recruitment design
- Matched 1:5 with controls on sex, age and genetic ancestry
Main finding
As reported in the abstract
- Men with 47,XXY among genotyped males
- 862
- Men with 47,XYY among genotyped males
- 747
- East Asian ancestry, 47,XXY
- 10 of 7313 participants
- East Asian ancestry, 47,XYY
- 14 of 7313 participants
- European ancestry, 47,XXY
- 725 of 427 143 participants
- European ancestry, 47,XYY
- 625 of 427 143 participants
- Undiagnosed at assessment, 47,XXY
- 636 (74.X%)
- Undiagnosed at assessment, 47,XYY
- 745 (99%)
Observational data: associations, not effects.
Further findings
| Outcome | 47,XXY | 47,XYY | Controls |
|---|---|---|---|
| Undiagnosed at assessment · mean (SD) age at assessment 61 (12) years | 74.X% | 99% | — not stated in the abstract |
| Charlson Comorbidity Index, 47,XXY vs controlsHigher with SCA · mean | 4.30 (SD 2.72) | — not stated in the abstract | 3.90 (SD 2.47) |
| Charlson Comorbidity Index, 47,XYY vs controlsHigher with SCA · mean | — not stated in the abstract | 4.45 (SD 2.90) | 3.82 (SD 2.50) |
| Outpatient encounters per year, 47,XXY vs controlsMedian | 22.6 (IQR 11.8–37.8) | — not stated in the abstract | 16.8 (IQR 9.4–28) |
| Outpatient encounters per year, 47,XYY vs controlsMedian | — not stated in the abstract | 21.4 (IQR 12.4–33.8) | 17.0 (IQR 9.4–28.2) |
| Self-reported physical function (HRQOL), 47,XXY vs controlsSeveral HRQOL measures lower with SCA · mean | 34.2 (SD 12) | — not stated in the abstract | 37.8 (SD 12.8) |
| Self-reported physical function (HRQOL), 47,XYY vs controlsMean | — not stated in the abstract | 36.3 (SD 11.6) | 37.9 (SD 12.8) |
— not stated in the abstract
Military service history, all-cause standardized mortality ratio and age of death
- 47,XXY and 47,XYY had similar military service history, all-cause standardized mortality ratio and age of death vs matched controls
47,XXY with vs without clinical diagnosis: health care utilization and Charlson Comorbidity Index
- Men with a clinical diagnosis of 47,XXY had higher health care utilization (median [IQR] encounters per year: 26.6 [14.9-43.2] vs 22.2 [11.3-36.0]) than those without a clinical diagnosis
- Men with a clinical diagnosis of 47,XXY had lower Charlson Comorbidity Index scores (mean [SD]: 3.7 [2.7] vs 4.5 [4.1]) than those without a clinical diagnosis
Original publication
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