Chen Wei-Jun, Ji Chai, Yao Dan, Zhao Zheng-Yan
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J Pediatr Endocrinol Metab. 2017 Nov 27;30(12):1271-1276. doi: 10.1515/jpem-2017-0140.
The objective of the study was to describe the prevalence of abnormal thyroid function and volume in children and adolescents with Williams syndrome (WS) in Zhejiang Province, China.
Thyroid function, including thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), and thyroid antibodies (thyroid peroxidase and thyroglobulin) were measured in 83 patients with WS, aged 0.2-16.5 years. Twenty-three patients were followed for an average of 1.7 years (0.4-4.1), and multiple TSH determinations were considered. Thyroid ultrasonography was performed on 49 patients.
One patient was diagnosed with overt hypothyroidism, and 23 patients (27%) had subclinical hypothyroidism (SH). Thyroid antibodies were absent in all patients. In five age groups (0-1 years, 1-3 years, 3-6 years, 6-9 years, 9-18 years), the prevalence of patients with subclinical hypothyroidism was 25%, 28.5%, 44.4%, 16.7% and 4.7%, respectively. Through ultrasound examination, 21 patients (42%) were observed to have thyroid hypoplasia (TH), and there were no cases of thyroid haemiagenesis. The incidence rate of TH increased with age, rising from 20% in the youngest group to 66% in the oldest.
SH and TH is common in children and adolescents with WS. Yearly evaluation of thyroid must be performed in all patients in this population, regardless of the result of the neonatal screening. Age under 6 years and existing thyroid abnormalities are risk factors for developing SH, and a shorter follow-up interval is needed for screening in these individuals, SH is often self-limiting, and clinicians should be alert to overt hypothyroidism.
本研究的目的是描述中国浙江省威廉姆斯综合征（WS）儿童和青少年甲状腺功能及体积异常的患病率。
对83例年龄在0.2至16.5岁的WS患者进行甲状腺功能检测，包括促甲状腺激素（TSH）、游离三碘甲状腺原氨酸（fT3）、游离甲状腺素（fT4）和甲状腺抗体（甲状腺过氧化物酶和甲状腺球蛋白）。对23例患者进行了平均1.7年（0.4至4.1年）的随访，并进行了多次TSH测定。对49例患者进行了甲状腺超声检查。
1例患者被诊断为显性甲状腺功能减退，23例患者（27%）患有亚临床甲状腺功能减退（SH）。所有患者均无甲状腺抗体。在五个年龄组（0至1岁、1至3岁、3至6岁、6至9岁、9至18岁）中，亚临床甲状腺功能减退患者的患病率分别为25%、28.5%、44.4%、16.7%和4.7%。通过超声检查，观察到21例患者（42%）有甲状腺发育不全（TH），无甲状腺半侧发育不全病例。TH的发病率随年龄增长而增加，从最小组的20%上升到最大组的66%。
SH和TH在WS儿童和青少年中很常见。该人群的所有患者都必须每年进行甲状腺评估，无论新生儿筛查结果如何。6岁以下及现有甲状腺异常是发生SH的危险因素，这些个体需要更短的随访间隔进行筛查，SH通常是自限性的，临床医生应警惕显性甲状腺功能减退。
