Schneider Christina, Dietlein Markus, Faust Michael, Drzezga Alexander, Schmidt Matthias
Department of Nuclear Medicine, University Hospital of Cologne.
Department of Clinical Endocrinology, University Hospital of Cologne.
Nuklearmedizin. 2019 Jun;58(3):265-271. doi: 10.1055/a-0830-4425. Epub 2019 Apr 11.
Thyroid hemiagenesis (TH) is a rare congenital anomaly in which one thyroid lobe fails to develop. We describe our experience with at least 13 patients presenting with TH at our department.
We retrospectively analysed patients with TH, who had been referred primarily to our clinic between 2004 and 2010. In patients with TH, thyroid function parameters and thyroid autoantibodies were examined. Tc-pertechnetate thyroid scintigraphy and sonography were performed in all patients and confirmed the diagnosis of TH.
We identified 13 patients (11 women, 2 men) with TH in our patient collective and calculated an estimated prevalence of TH of 0.08 %.We found TH to occur more frequently in the left lobe and also more frequently in females than in males. 9 patients presented with a total absence of one thyroid lobe and 4 patients presented with severe hypoplasia of one thyroid lobe with an isthmus appearing as a "hockey stick sign" on scintigraphic imaging. Associated thyroid diseases could be observed in the remaining lobe in all patients and included hyperthyroidism, hypothyroidism, nodular goiter, toxic goiter, hypofunctioning nodules, Graves' disease and Hashimoto-thyroiditis. The most frequent thyroid disease in our patients with TH was nodular goiter. We did not find any association of TH with malignancy.
TH is mostly detected incidentally as the prevalence of TH is extraordinary low. The fact that all of our patients with TH were also affected by other forms of thyroid disease is reasonable since the patients were not referred to the diagnostic centre due to TH but rather due to the associated thyroid disease. Possibly there are different groups of TH: the symptomatic hypothyroid children, the lifelong euthyroid adults who are diagnosed incidentally through another thyroid disease and the patients with a molecular failure of proper thyroid development.
甲状腺半侧发育不全（TH）是一种罕见的先天性异常，其中一个甲状腺叶未能发育。我们描述了本科室至少13例TH患者的诊疗经验。
我们回顾性分析了2004年至2010年间主要转诊至我院门诊的TH患者。对TH患者检查甲状腺功能参数和甲状腺自身抗体。所有患者均进行了锝-高锝酸盐甲状腺闪烁扫描和超声检查，确诊为TH。
我们在患者群体中确定了13例TH患者（11例女性，2例男性），估计TH患病率为0.08%。我们发现TH在左叶更常见，女性比男性更易发生。9例患者表现为一个甲状腺叶完全缺如，4例患者表现为一个甲状腺叶严重发育不全，峡部在闪烁扫描成像上呈“曲棍球棒征”。所有患者的剩余甲状腺叶均观察到相关甲状腺疾病，包括甲状腺功能亢进、甲状腺功能减退、结节性甲状腺肿、毒性甲状腺肿、功能减退性结节、格雷夫斯病和桥本甲状腺炎。我们的TH患者中最常见的甲状腺疾病是结节性甲状腺肿。我们未发现TH与恶性肿瘤有任何关联。
由于TH的患病率极低，大多是偶然发现。我们所有的TH患者也都患有其他形式的甲状腺疾病，这是合理的，因为患者并非因TH转诊至诊断中心，而是因相关甲状腺疾病。可能存在不同类型的TH：有症状的甲状腺功能减退儿童、因另一种甲状腺疾病偶然确诊的终身甲状腺功能正常的成年人以及甲状腺正常发育存在分子缺陷的患者。
