Autoimmunity Laboratory, Immunology Area, Bambino Gesù Children's Hospital IRCCS, Piazza S, Onofrio, 4-00165 Rome, Italy.
Ital J Pediatr. 2013 Dec 20;39:79. doi: 10.1186/1824-7288-39-79.
Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome.
Sixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and the presence of clinical/pre-clinical autoimmune disorders and of autoantibodies was examined.
Out of the 66 Turner patients, 26 had thyroid autoimmune disorders (39.4%), 14 patients had Hashimoto's thyroiditis with clinical or subclinical hypothyroidism (21.2%) and 12 patients had circulating anti-thyroid antibodies, echographic pattern of diffuse hypoechogenicity and normal thyroid hormone levels (18.2%). None were affected by Graves' disease. We analyzed the overall incidence of thyroid autoimmunity within the 3 different age groups 0-9.9, 10-19.9 and 20-29.9 years. No statistically significant difference was observed in the incidence of thyroid autoimmunity within the age-groups (χ2-test p > 0.05).Out of the 66 patients, 31 patients had the 45,X karyotype; within this first group 14 out of 31 patients were affected by autoimmune thyroid disease. A second group of 29 patients included 19 patients with mosaicism, 5 patients with deletions and 5 patients with ring chromosome; out of these 29 patients 7 were affected by autoimmune thyroid disease. A third group included 6 patients with X isochromosome; 5 out of 6 were affected by autoimmune thyroid disease. A statistically significant difference in the frequency of thyroid autoimmunity within the different karyotype groups was observed (χ2-test p = 0.0173).When comparing the X isochromosome group with the pooled group of other karyotypes, of note, the frequency of thyroid autoimmunity was statistically higher in the X isochromosome group (Fisher exact test p = 0.0315).
Our data confirm a high frequency of thyroid autoimmunity in Italian Turner patients. Patients with X isochromosome are more prone to develop thyroid autoimmunity. Further, an early assay of autoantibodies and monitoring thyroid hormones is fundamental for detecting hypothyroidism earlier and start adequate replacement therapy.
特纳综合征是由 X 染色体的数目和结构异常引起的。特纳患者中观察到自身免疫的频率增加以及自身抗体的发生率升高。本研究的目的是对 66 例意大利特纳综合征患者的自身免疫发生率进行回顾性分析。
招募了 66 名未经选择的连续意大利特纳患者。检查了年龄、核型与临床/亚临床自身免疫疾病和自身抗体存在之间的关系。
在 66 例特纳患者中，26 例患有甲状腺自身免疫疾病（39.4%），14 例患有桥本甲状腺炎伴临床或亚临床甲状腺功能减退（21.2%），12 例患有循环抗甲状腺抗体、弥漫性低回声超声表现和正常甲状腺激素水平（18.2%）。没有患者患有格雷夫斯病。我们分析了 0-9.9 岁、10-19.9 岁和 20-29.9 岁 3 个不同年龄组内甲状腺自身免疫的总体发生率。年龄组内甲状腺自身免疫的发生率无统计学差异（卡方检验 p>0.05）。在 66 例患者中，有 31 例为 45,X 核型；在这一组中，有 14 例患有自身免疫性甲状腺疾病。第二组包括 29 例嵌合体患者、5 例缺失患者和 5 例环状染色体患者；这 29 例患者中有 7 例患有自身免疫性甲状腺疾病。第三组包括 6 例 X 等臂染色体患者；其中 5 例患有自身免疫性甲状腺疾病。不同核型组内甲状腺自身免疫的频率存在统计学显著差异（卡方检验 p=0.0173）。当将 X 等臂染色体组与其他核型的混合组进行比较时，值得注意的是，X 等臂染色体组甲状腺自身免疫的频率明显更高（Fisher 确切检验 p=0.0315）。
我们的数据证实了意大利特纳患者甲状腺自身免疫的高频率。X 等臂染色体患者更容易发生甲状腺自身免疫。此外，早期检测自身抗体并监测甲状腺激素对于更早发现甲状腺功能减退和开始适当的替代治疗至关重要。
