UNASSIGNED: To determine the prevalence of clinically diagnosed and undiagnosed X or Y chromosome aneuploidy among men enrolled in the Million Veteran Program (MVP); to describe military service metrics of men with SCAs; and to compare morbidity and mortality outcomes between men with SCA with and without a clinical diagnosis vs matched controls.
UNASSIGNED: This cross-sectional study used a case-control recruitment design to select biological males enrolled in the MVP biobank in the US Veterans Administration health care system from 2011 to 2022. Cases were participants with 47,XXY syndrome or 47,XYY syndrome, matched 1:5 with controls based on sex, age, and genetic ancestry. Data were analyzed from January 2022 to December 2023.
UNASSIGNED: Genomic identification of an additional X or Y chromosome.
UNASSIGNED: Outcomes of interest included prevalence of men with SCAs from genomic analysis; clinical SCA diagnosis; Charlson Comorbidity Index; rates of outpatient, inpatient, and emergency encounters per year; self-reported health outcomes; and standardized mortality ratio.
UNASSIGNED: Of 595 612 genotyped males in the MVP, 862 had an additional X chromosome (47,XXY) and 747 had an extra Y chromosome (47,XYY), with the highest prevalence among men with East Asian (47,XXY: 10 of 7313 participants; 47,XYY: 14 of 7313 participants) and European (47,XXY: 725 of 427 143 participants; 47,XYY: 625 of 427 143 participants) ancestry. Mean (SD) age at assessment was 61 (12) years, at which point 636 veterans (74.X%) with 47,XXY and 745 veterans (99%) with 47,XYY remained undiagnosed. Individuals with 47,XXY and 47,XYY had similar military service history, all-cause standardized mortality ratio, and age of death compared with matched controls. Individuals with SCA, compared with controls, had higher Charlson Comorbidity Index scores (47,XXY: mean [SD], 4.30 [2.72] vs controls: mean [SD], 3.90 [2.47]; 47,XYY: mean [SD], 4.45 [2.90] vs controls: mean [SD], 3.82 [2.50]) and health care utilization (eg, median [IQR] outpatient encounters per year: 47,XXY, 22.6 [11.8-37.8] vs controls, 16.8 [9.4-28]; 47,XYY: 21.4 [12.4-33.8] vs controls: 17.0 [9.4-28.2]), while several measures of HRQOL were lower (eg, mean [SD] self-reported physical function: 47,XXY: 34.2 [12] vs control mean [SD] 37.8 [12.8]; 47,XYY: 36.3 [11.6] vs control 37.9 [12.8]). Men with a clinical diagnosis of 47,XXY, compared with individuals without a clinical diagnosis, had higher health care utilization (eg, median [IQR] encounters per year: 26.6 [14.9-43.2] vs 22.2 [11.3-36.0]) but lower Charlson Comorbidity Index scores (mean [SD]: 3.7 [2.7] vs 4.5 [4.1]).
UNASSIGNED: 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.
■确定参加百万退伍军人计划(MVP)的男性中临床诊断和未诊断的X或Y染色体非整倍体的患病率;描述有SCA的男性的军事服务指标;并比较有和没有临床诊断的SCA男性与匹配对照的发病率和死亡率结果。
■这项横断面研究使用了病例对照招募设计,以选择2011年至2022年在美国退伍军人管理局医疗保健系统的MVP生物库注册的生物男性。病例为47,XXY综合征或47,XYY综合征的参与者,将1:5与基于性别的对照相匹配,年龄,和遗传祖先。数据从2022年1月至2023年12月进行了分析。
■附加X或Y染色体的基因组鉴定。
■感兴趣的结果包括基因组分析中SCA男性的患病率;临床SCA诊断;Charlson合并症指数;门诊率,住院,和每年的紧急情况;自我报告的健康结果;和标准化死亡率。
■在MVP中的595612个基因分型的男性中,862有一个额外的X染色体(47,XXY)和747有一个额外的Y染色体(47,XYY),在东亚(47,XXY:7313名参与者中的10名;47,XYY:7313名参与者中的14名)和欧洲(47,XXY:427143名参与者中的725名;47,XYY:427143名参与者中的625名)男性中患病率最高。评估时的平均(SD)年龄为61(12)岁,在这一点上636退伍军人(74。X%)47、XXY和745名退伍军人(99%)47、XYY仍未诊断。47、XXY和47、XYY的个人有相似的服兵役历史,全因标准化死亡率,和死亡年龄与匹配的对照组相比。有SCA的个人,与对照组相比,Charlson合并症指数得分较高(47,XXY:平均值[SD],4.30[2.72]与对照:平均值[SD],3.90[2.47];47,XYY:平均值[SD],4.45[2.90]与对照:平均值[SD],3.82[2.50])和医疗保健利用率(例如,每年门诊病人的中位数:47,XXY,22.6[11.8-37.8]与对照,16.8[9.4-28];47,XYY:21.4[12.4-33.8]vs对照:17.0[9.4-28.2]),而HRQOL的几项衡量标准较低(例如,平均[SD]自我报告的身体功能:47,XXY:34.2[12]vs对照平均[SD]37.8[12.8];47,XYY:36.3[11.6]vs对照37.9[12.8])。临床诊断为47,XXY的男性,与没有临床诊断的个体相比,具有较高的医疗保健利用率(例如,每年遇到的中位数[IQR]:26.6[14.9-43.2]vs22.2[11.3-36.0]),但Charlson合并症指数得分较低(平均值[SD]:3.7[2.7]vs4.5[4.1])。
■在这项对47,XXY和47,XYY综合征男性的病例对照研究中,SCA的患病率与一般人群的估计值相当.虽然这些人在军队中成功服役,随着年龄的增长,他们的发病率较高,HRQOL较差.该样本的长期纵向随访将为临床和患者报告的结果提供信息。祖先的角色,死亡率统计。