尽管每1000名女性中就有1名受到影响,对X三体综合征(47,XXX)知之甚少,尤其是在未确诊的老年人中。在这项研究中,我们旨在确定参加百万退伍军人计划的女性中47,XXX的患病率(MVP;平均年龄50.2±13.6岁),并比较了女性与47,XXX和46,XX匹配的对照组之间的广泛健康结局。我们确定了61个带有额外X染色体的雌性,对应于每100,000名女性103的患病率;27.9%已被临床诊断。47岁的女性,XXX的身材更高(6.1厘米,p<0.001),门诊就诊率更高(p=0.026),肾脏疾病的几率更高(优势比[OR]=12.3;95%置信区间[CI]2.9-51.8),青光眼(OR=5.1;95%CI1.5-13.9),和充血性心力衰竭(OR=5.6;95%CI1.4-24.2),与46名相同年龄和遗传血统的XX对照相比,更有可能失业(p=0.008),年收入较低(p=0.021)。然而,其他遭遇类型的比率没有差异,Charlson合并症指数,所有其他医学和心理诊断,服兵役史或生活质量指标。总之,在这个老化和主要未诊断的样本中,47,XXX与匹配的对照相比差异不大,为X三体文学提供了更令人放心的视角。
Despite affecting in 1 in every 1000 females, remarkably little is known about trisomy X syndrome (47,XXX), especially among older adults who are undiagnosed. In this study, we aimed to determine the prevalence of 47,XXX among females enrolled in the Million Veterans Program (MVP; mean age 50.2 ± 13.6 years), and compare broad health outcomes between females with 47,XXX and 46,XX matched controls. We identified 61 females with an additional X chromosome, corresponding to a prevalence of 103 per 100,000 females; 27.9% had been clinically diagnosed. Females with 47,XXX had taller stature (+6.1 cm, p < 0.001), greater rate of outpatient encounters (p = 0.026), higher odds of kidney disease (odds ratio [OR] = 12.3; 95% confidence interval [CI] 2.9-51.8), glaucoma (OR = 5.1; 95% CI 1.5-13.9), and congestive heart failure (OR = 5.6; 95% CI 1.4-24.2), and were more likely to be unemployed (p = 0.008) with lower annual income (p = 0.021) when compared with 46,XX controls of the same age and genetic ancestry. However, there were no differences in the rates of other encounter types, Charlson Comorbidity Index, all other medical and psychological diagnoses, military service history or quality of life metrics. In conclusion, in this aging and predominately undiagnosed sample, 47,XXX conferred few differences when compared with matched controls, offering a more reassuring perspective to the trisomy X literature.