目的:多年来,全球范围内的先天性甲状腺功能减退症(CH)发病率增加。在这项研究中,我们旨在调查CH的流行病学特征,广州的碘状况,调查中国2010-2020年可能影响CH发病率的因素。
方法:我们回顾性回顾了2010-2020年期间通过新生儿筛查检测到的所有CH病例。根据首次诊断时的甲状腺超声,CH被分为可疑的甲状腺发育不良(SDH)或甲状腺发育不全(TD)。在2-3岁时停用L-甲状腺素4周后对患者进行重新评估,以确认诊断为永久性CH(PCH)或一过性CH(TCH)。
结果:从2010年到2020年,从2,400,383例新生儿(1:1,450)中确认了1,655例CH患者。CH发病率从[2010-2014]期间的1:2,584增加到[2015-2020]期间的1:1,086。在1,337例甲状腺超声检查患者中,84.29%为SDH,15.71%为TD。进一步分析显示,更多的SDH(78.32%)是TCH,而更多的TD(87.12%)是PCH。血斑点促甲状腺激素值>5mIU/L的比例为8.03%至20.46%,表明碘缺乏。早产儿的患病率从[2010-2014年]的5.50%上升到[2015-2020年]的7.06%(p<0.001)。
结论:在过去的十年中,CH发病率逐渐增加。SDH是CH的大多数,其中大部分是TCH,而大多数TD患者为PCH。在我们的研究中,发病率增加可能主要是由于碘缺乏和早产儿发病率增加。
OBJECTIVE: An increased incidence of congenital hypothyroidism (CH) has been described worldwide over the years. In this study, we aimed to investigate the epidemiologic characteristics of CH, the iodine status in Guangzhou, China and to investigate which factors might influence the CH incidence during the period 2010-2020.
METHODS: We retrospectively reviewed all cases of CH detected by newborn screening during the period 2010-2020. CH was classified as either suspected thyroid dyshormonogenesis (SDH) or thyroid dysgenesis (TD) based on thyroid ultrasound at first diagnosis. Patients were re-evaluated after 4 weeks of L-thyroxine withdrawal at age of 2-3 years to confirm the diagnosis of permanent CH (PCH) or transient CH (TCH).
RESULTS: From 2010 to 2020, 1,655 patients with CH were confirmed from 2,400,383 newborns (1:1,450). The CH incidence increased from 1:2,584 in period [2010-2014] to 1:1,086 in period [2015-2020]. Among the 1,337 patients with thyroid ultrasound, 84.29% were SDH whereas 15.71% had TD. Further analysis revealed that more SDH (78.32%) were TCH whereas more TD (87.12%) turned to be PCH. The proportion of blood spot thyrotropin values >5 mIU/L ranged from 8.03 to 20.46%, indicating iodine deficiency. The prevalence of preterm infants increased from 5.50% in period [2010-2014] to 7.06% in period [2015-2020] (p<0.001).
CONCLUSIONS: In the past decade, the CH incidence has increased progressively. SDH was the majority of CH, most of which were TCH, while most patients with TD were PCH. The increased incidence might be mainly due to iodine deficiency and increased rates of preterm infants in our study.