[特纳综合征中甲状腺过氧化物酶抗体和甲状腺功能的流行]。

Beata Wikiera, Ewa Barg, Agnieszka Konieczna, Ewa Głab, Anna Noczyńska
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引用次数: 0

摘要

简介:与一般人群相比,Turner综合征(TS)患者自身免疫性疾病的发生率更高。5%至10%的病例发生在青春期之前。该研究的目的是确定甲状腺过氧化物酶抗体(TPO-Ab)的患病率与TS患者的核型、临床症状和激素甲状腺功能的相关性。材料与方法:分析96例年龄0.5 ~ 19.8岁(平均年龄12.3±5.0)的TS女孩和58例年龄和BMI相符的TS女孩(对照组)。根据临床特征和核型分析确定TS的诊断。54例有X单体,7例有同工染色体,1例有其他X染色体畸变,11例有镶嵌现象45,X/46,XX, 3- 45,X/47,XXX, 1- 45,X/46,XX/47,XXX, 19例有结构畸变的镶嵌现象,12- 45,X/46,X,i(Xq), 2-其他,5例有Y染色体畸变。所有患儿均进行TSH、FT(4)、FT(3)、TPO-Ab、胆固醇、甘油三酯水平、体格及超声检查。结果:25%的TS患者TPO-Ab阳性。该频率显著高于对照组(5.2%)(p=0.0017)。TPO-Ab阳性:同染色体(46,X,i(Xq)和45,X/46,X,i(Xq))的女生为42%,X单体女生为22.2%,其他核型女生为17.4%。TPO-Ab滴度阳性百分比随着TS患者的累积年龄而增加。10岁时为6.7%,一年后几乎翻了一番(12.1%)。下一个强劲增长出现在16岁(高达19.1%),并逐渐上升到20岁。血清阴性患者的平均年龄明显低于血清阳性患者(p=0.018)。仅有2例患者出现甲状腺功能亢进症状,需要短期抗甲状腺治疗。其他患者没有表现出任何甲状腺功能障碍的临床特征,但出现了甲状腺异常,如TSH升高(11.4%)或甲状腺肿大(28%)。在研究之前,在轻度TSH升高的患者中,TPO-Ab、甲状腺激素和脂质水平之间缺乏相关性与l -甲状腺素的补充有关。结论:TS患者,尤其是同染色体患者,抗甲状腺抗体发生率高于同染色体患者。因此,从10岁左右开始监测TPO-Ab是很重要的,即使是无症状的患者。然而,在常规的临床实践中,甲状腺检查和TSH水平(即使在无症状的患者中)也应每年筛查一次,以早期发现亚临床甲状腺功能减退和TS女孩更严重的生长发育迟缓的风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[The prevalence of thyro-peroxidase antibodies and thyroid function in Turner's syndrome].

Introduction: Higher frequency of autoimmune diseases in patients with Turner's syndrome (TS) compared with the general population has been described. 5 to 10% of cases occur before adolescence. The goal of the study was to determine the prevalence of thyro-peroxidase antibodies (TPO-Ab) in correlation with karyotype, clinical symptoms and hormonal thyroid function in TS patients.

Material and methods: 96 girls with TS, aged 0.5-19.8 years (mean age 12.3+/-5.0) and 58 girls matched for age and BMI (control group) were analysed. The diagnosis of TS was established basing on clinical features and karyotype analysis. 54 had X monosomy, 7--isochromosome, 1--other X chromosome aberration, 11--mosaicism 45,X/46,XX, 3--45,X/47,XXX, 1--45,X/46,XX/47,XXX, 19--mosaicism with structural aberration: 12--45,X/46,X,i(Xq), 2--others, 5--with Y chromosome. In all children TSH, FT(4), FT(3), TPO-Ab, cholesterol, triglyceride levels, physical and ultrasonographic examination were performed.

Results: 25% of TS patients were positive for TPO-Ab. This frequency was significantly higher (p=0.0017) than that seen in the control group (5.2%). Positive titers of TPO-Ab were found: in 42% of girls with isochromosome (46,X,i(Xq) and 45,X/46,X,i(Xq)), 22.2% with X monosomy, and 17.4% with other karyotypes. The percentage of positive TPO-Ab titres increased with cumulative age of TS patients. It was 6.7% at the age of 10 years and almost doubled (12.1%) one year later. The next strong increase was observed at the age of 16 (up to 19.1%) and gradually rose to 20 years of age. Mean age of seronegative patients was significantly lower than that of seropositive patients (p=0.018). Only 2 patients manifested symptoms of hyperthyroidism requiring short period of antithyroid treatment. Others did not reveal any clinical features of thyroid dysfunction, although developed thyroid abnormalities such as elevated TSH (11.4%) or goiter (28%). Lack of correlation between TPO-Ab, thyroid hormones and lipid levels was associated with L-thyroxine supplementation, in patients with mildly elevated TSH, prior to the study.

Conclusions: Patients with TS, especially with isochromosome, have antithyroid antibodies more frequently than their co-evals. Therefore, it is important to monitor TPO-Ab from about the age of 10 years even in asymptomatic patients. However, in routine clinical practice, both the thyroid examination and TSH level (even in asymptomatic patients) should be screened yearly for early detection of subclinical hypothyroidism and risk of more severe growth retardation in girls with TS.

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