Autoimmune thyroid syndrome in women with Turner's syndrome - the association with karyotype
Autoimmune thyroid syndrome in women with Turner's syndrome - the association with karyotype
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DOI：
10.1046/j.1365-2265.2001.01296.x
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发表时间：
2001-08-01
影响因子：
3.2
通讯作者：
Conway, GS
中科院分区：
文献类型：
--
作者：
Elsheikh, M;Wass, JAH;Conway, GS
目的特纳综合征（TS）女性患者发生自身免疫性甲状腺疾病的风险增加。评估染色体组型对TS成人甲状腺自身免疫影响的研究产生了相互矛盾的结果，但数量有限。本研究的目的是确定甲状腺自身免疫的频率在一个大的队列的妇女与TS和评估的影响，核型对甲状腺diseases.Design的发展，患者和测量数据可用于145名妇女与TS参加一个专门的成人特纳诊所。平均年龄为26岁（范围16-52岁）。所有患者均记录了甲状腺疾病、核型、甲状腺自身抗体和甲状腺功能的相关信息。与耶茨校正卡方检验被用来评估染色体核型和甲状腺自身免疫之间的关联。结果41%的TS妇女甲状腺自身抗体阳性，16%的妇女甲状腺功能减退的甲状腺素替代治疗。然而，83%的X-等染色体女性甲状腺自身抗体阳性，而33%的其他核型女性甲状腺自身抗体阳性（P < 0.0001）。与其他核型相比，具有同染色体X核型的女性也更容易患甲状腺功能减退症，需要甲状腺素治疗（37.5%同染色体-X对14% 45，结论：在这一大型TS女性队列中，我们发现，X染色体异常的女性患自身免疫性甲状腺疾病的风险特别高。提示X染色体长臂上的一个基因（Xq）可能在自身免疫性甲状腺疾病的发生发展中起重要的致病作用。
OBJECTIVE Females with Turner's syndrome (TS) are at an increased risk of developing autoimmune thyroid disease. Studies assessing the influence of karyotype on thyroid autoimmunity in adults with TS have yielded conflicting results but have been limited by small numbers. The aim of this study was to determine the frequency of thyroid autoimmunity in a large cohort of women with TS and to assess the Influence of karyotype on the development of thyroid disease.DESIGN, PATIENTS AND MEASUREMENTS Data were available for 145 women with TS attending a dedicated adult Turner clinic. The mean age was 26 years (range 16-52 years). Information regarding the presence of thyroid disease, karyotype, thyroid autoantibodies and thyroid function was recorded in all. The chi-squared test with Yates' correction was used to assess the association between karyotype and thyroid autoimmunity.RESULTS Forty-one per cent of women with TS had positive thyroid autoantibodies and 16% of women were hypothyroid on replacement therapy with thyroxine. However, 83% of women with an X-Isochromosome had positive thyroid autoantibodies compared with 33% of women with other karyotypes (P < 0.0001). Women with an isochromosome-X karyotype were also significantly more likely to become frankly hypothyroid and require thyroxine compared with other karyotypes (37.5% isochromosome-X vs. 14% 45, X vs. 6% other karyotypes P = 0.0034).CONCLUSIONS In this large cohort of women with TS we have shown that the risk of developing autoimmune thyroid disease is particularly high in women with an X-isochromosome, suggesting that a gene on the long arm of the X chromosome (Xq) may play an important pathogenetic role in the development of autoimmune thyroid disease.