Jørgensen Kristian T, Rostgaard Klaus, Bache Iben, Biggar Robert J, Nielsen Nete M, Tommerup Niels, Frisch Morten
Department of Epidemiology Research, Statens, Serum Institut, 5 Artillerivej, DK-2300 Copenhagen S, Denmark.
Arthritis Rheum. 2010 Mar;62(3):658-66. doi: 10.1002/art.27270.
In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women with Turner's syndrome is characterized by diseases with a female or male predominance.
Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798 Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk.
The overall risk of autoimmune disease among women with Turner's syndrome was twice that among Danish women in general (SIR 2.1 [95% CI 1.6-2.7]). For autoimmune diseases with a female predominance, the SIR among women with Turner's syndrome was 1.7 (95% CI 1.2-2.4), whereas the SIR for autoimmune diseases with a male predominance among these women was 3.9 (95% CI 2.5-5.8). Associations were strongest for Hashimoto thyroiditis (SIR 14.6 [95% CI 6.7-27.1]), a strongly female-predominant condition, and type 1 diabetes mellitus (SIR 4.1 [95% CI 2.5-6.3]).
Women with Turner's syndrome are at excess risk of autoimmune diseases, notably autoimmune diseases characterized by male predominance.
从X染色体数量来看，患有特纳综合征的女性在细胞遗传学上与男性相似。在患有特纳综合征的女性中观察到自身免疫性疾病风险增加。本研究旨在调查患有特纳综合征的女性的自身免疫性疾病谱是否以女性或男性为主的疾病为特征。
利用丹麦细胞遗传学中央登记处、丹麦国家患者登记处和丹麦民事登记系统，我们估计了1980年至2004年间随访12461人年的798名丹麦特纳综合征女性队列中46种不同自身免疫性疾病的相对风险。自身免疫性疾病首次住院的标准化发病率（SIR）和95%置信区间（95%CI）用作相对风险的衡量指标。
患有特纳综合征的女性自身免疫性疾病的总体风险是丹麦普通女性的两倍（SIR 2.1 [95%CI 1.6 - 2.7]）。对于以女性为主的自身免疫性疾病，患有特纳综合征的女性的SIR为1.7（95%CI 1.2 - 2.4），而这些女性中以男性为主的自身免疫性疾病的SIR为3.9（95%CI 2.5 - 5.8）。关联最强的是桥本甲状腺炎（SIR 14.6 [95%CI 6.7 - 27.1]），这是一种女性占主导的疾病，以及1型糖尿病（SIR 4.1 [95%CI 2.5 - 6.3]）。
患有特纳综合征的女性患自身免疫性疾病的风险过高，尤其是以男性为主的自身免疫性疾病。
