Cebeci Ayşe Nurcan, Güven Ayla, Yıldız Metin
İstanbul Medeniyet University, Göztepe Education and Research Hospital, Department of Pediatric Endocrinology, İstanbul, Turkey.
J Clin Res Pediatr Endocrinol. 2013;5(2):116-20. doi: 10.4274/Jcrpe.884.
Although the association between Down's syndrome (DS) and thyroid dysfunction is well recognized, the cause of this condition is not known.
Hospital records of patients with DS and hypothyroidism referred to our clinic were retrospectively reviewed. Initial thyroid hormone and thyrotropin (TSH) levels, age at admission, initial anthropometric measurements, age at the beginning of therapy, initial L-thyroxine (L-T4) doses, time to normalization of the thyroid function tests, and L-T4 dose at last visit were recorded. Thyroid ultrasound imaging was used to measure the size of the gland. Descriptive data were expressed as mean±SD values. Skewed data were shown as median and interquartile ranges (IQR).
There were 62 patients with DS (32 male and 30 female). Median TSH level at the first visit was 10.40 (19.4) µIU/mL and median free T4 level was 1.18 (0.43) ng/dL. There was no statistical difference in terms of age, hormone and antibody levels, thyroid volume and L-T4 doses between boys and girls. Thyroid volumes of 54 patients were measured. Only nine of these patients had a normal-sized thyroid gland. Median total thyroid volume was 0.89 (2.07) mL. Thyroid volume was negatively correlated to L-T4 dose at last visit (p=0.006, r=-0.387).
We found a high prevalence of thyroid dysgenesis in patients with DS and hypothyroidism. This association has not been reported before. Further studies investigating the thyroid gland size in these patients need to be performed to confirm the results.
尽管唐氏综合征（DS）与甲状腺功能障碍之间的关联已得到充分认识，但其病因尚不清楚。
回顾性分析转诊至我们诊所的DS合并甲状腺功能减退患者的医院记录。记录初始甲状腺激素和促甲状腺激素（TSH）水平、入院年龄、初始人体测量数据、治疗开始时的年龄、初始左旋甲状腺素（L-T4）剂量、甲状腺功能检查恢复正常的时间以及最后一次就诊时的L-T4剂量。采用甲状腺超声成像测量甲状腺大小。描述性数据以均值±标准差表示。偏态数据以中位数和四分位数间距（IQR）表示。
共有62例DS患者（32例男性和30例女性）。首次就诊时TSH水平中位数为10.40（19.4）μIU/mL，游离T4水平中位数为1.18（0.43）ng/dL。男孩和女孩在年龄、激素和抗体水平、甲状腺体积和L-T4剂量方面无统计学差异。测量了54例患者的甲状腺体积。其中只有9例患者甲状腺大小正常。甲状腺总体积中位数为0.89（2.07）mL。甲状腺体积与最后一次就诊时的L-T4剂量呈负相关（p = 0.006，r = -0.387）。
我们发现DS合并甲状腺功能减退患者中甲状腺发育不全的患病率较高。此前尚未报道过这种关联。需要进一步研究这些患者的甲状腺大小以证实结果。
