Lacka Katarzyna, Pempera Nikola, Główka Alicja, Mariowska Agnieszka, Miedziaszczyk Miłosz
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Students' Scientific Society, Poznan University of Medical Sciences, 61-701 Poznan, Poland.
Int J Mol Sci. 2024 Dec 2;25(23):12937. doi: 10.3390/ijms252312937.
Turner syndrome (TS) is associated with thyroid disorders. Since the rate of thyroid disease among patients with this syndrome is significantly higher as compared to the general population, it seems vital to explore this particular area. This systematic and critical review was performed to evaluate thyroid function and autoimmunity in patients with Turner syndrome. Four databases were searched: PubMed, Scopus, Google Scholar, and Cochrane Library from the onset of the study to July 2024. Two independent researchers manually searched databases for the following keywords: "Turner syndrome", "anti-TPO", "anti-Tg", "autoimmune thyroid disorders", "TSH", and "hypothyroidism", which were entered into the search engine in isolation, as well as in combinations. Criteria incorporating information on thyroid-stimulating hormone (TSH), triiodothyronine (total-TT3), and thyroxine (free and total-fT4, TT4) concentrations among patients and control groups were also included. Thyroid diseases are common in patients with Turner syndrome. Women with TS present both higher TSH levels and positive thyroid antibodies concentrations. Typical thyroid ultrasound heterogeneity with a hypogenic or mixed echopattern was also observed. As a result, it is essential to monitor thyroid hormone levels in this group, in order to detect hypothyroidism earlier and initiate appropriate replacement therapy. Thyroid diseases in women with TS may remain underdiagnosed for a number of years, due to the lack of screening. Therefore, the authors suggest a thyroid screening regimen for TS patients, which allows for early detection of the disease and implementation of treatment.
特纳综合征（TS）与甲状腺疾病有关。由于该综合征患者的甲状腺疾病发生率与普通人群相比显著更高，因此探索这一特定领域似乎至关重要。进行这项系统性的批判性综述是为了评估特纳综合征患者的甲状腺功能和自身免疫情况。从研究开始到2024年7月，检索了四个数据库：PubMed、Scopus、谷歌学术和考克兰图书馆。两名独立研究人员手动在数据库中搜索以下关键词：“特纳综合征”、“抗甲状腺过氧化物酶抗体（anti-TPO）”、“抗甲状腺球蛋白抗体（anti-Tg）”、“自身免疫性甲状腺疾病”、“促甲状腺激素（TSH）”和“甲状腺功能减退症”，这些关键词单独输入搜索引擎，也进行组合输入。纳入的标准还包括患者组和对照组中促甲状腺激素（TSH）、三碘甲状腺原氨酸（总-TT3）以及甲状腺素（游离和总-fT4、TT4）浓度的相关信息。甲状腺疾病在特纳综合征患者中很常见。患有TS的女性促甲状腺激素水平较高，甲状腺抗体浓度也呈阳性。还观察到典型的甲状腺超声异质性，表现为低回声或混合回声模式。因此，对该组患者监测甲状腺激素水平至关重要，以便更早地检测出甲状腺功能减退症并启动适当的替代治疗。由于缺乏筛查，TS女性患者的甲状腺疾病可能多年未被诊断出来。因此，作者建议为TS患者制定甲状腺筛查方案，以便早期发现疾病并实施治疗。
