Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO; eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Genet Med. 2024 Jan;26(1):100987. doi: 10.1016/j.gim.2023.100987. Epub 2023 Sep 28.
To assess the population-based incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism (and associated variants) and describe the associated mortality pattern. In addition, a systematic literature review of papers providing prevalence data of 45,X/46,XY mosaicism was performed.
A population-based epidemiological study of all individuals diagnosed with 45,X/46,XY mosaicism between 1960 and 2019. Mortality was analyzed using data from the Danish Causes of Death Register. One-hundred randomly age- and sex-matched general population controls per case were identified for comparison.
One-hundred-thirty-seven males and 46 females with 45,X/46,XY mosaicism were identified. The apparent prevalence was 5.6 per 100,000 liveborn males and 2.1 per 100,000 liveborn females. The incidence of males with 45,X/46,XY increased during the study (P > .0001) but was stable for females (P = .4). Males were significantly older than females when diagnosed (median age = 29.1, interquartile range: 3.4-41.3) years versus 13.3 (interquartile range: 2.1-19.1) years, P = .002). All-cause mortality was doubled in males with 45,X/46,XY (Hazard Ratio = 2.0, 95% confidence interval: 1.2-3.3) and quadrupled in females (Hazard Ratio = 4.0, confidence interval: 2.0-7.9).
The apparent population-based prevalence of males and females with 45,X/46,XY is 5.6 and 2.1 per 100,000 liveborn males and females, respectively. Diagnosis of males with 45,X/46,XY males is increasing. 45,X/46,XY mosaicism is associated with an increased all-cause mortality.
评估人群中存在 45,X/46,XY 嵌合体（及其相关变体）的个体的发病率、患病率和诊断时的年龄，并描述相关的死亡模式。此外，还对提供 45,X/46,XY 嵌合体患病率数据的文献进行了系统的文献回顾。
对 1960 年至 2019 年间所有诊断为 45,X/46,XY 嵌合体的个体进行了一项基于人群的流行病学研究。使用丹麦死因登记处的数据来分析死亡率。每个病例随机匹配 100 名年龄和性别相匹配的一般人群对照。
共发现 137 名男性和 46 名女性患有 45,X/46,XY 嵌合体。明显的患病率为每 100,000 名活产男婴中有 5.6 例，每 100,000 名活产女婴中有 2.1 例。研究期间，男性 45,X/46,XY 的发病率增加（P>.0001），但女性发病率稳定（P=.4）。男性的诊断年龄明显大于女性（中位数年龄 29.1 岁，四分位间距：3.4-41.3 岁）与 13.3 岁（四分位间距：2.1-19.1 岁）相比，P=.002）。45,X/46,XY 男性的全因死亡率增加了一倍（风险比 2.0，95%置信区间：1.2-3.3），女性增加了四倍（风险比 4.0，置信区间：2.0-7.9）。
人群中男性和女性 45,X/46,XY 的患病率分别为每 100,000 名活产男婴 5.6 例和每 100,000 名活产女婴 2.1 例。男性 45,X/46,XY 的诊断正在增加。45,X/46,XY 嵌合体与全因死亡率增加相关。
