Endocrinology Outpatient Clinic, Institute of Mother and Child, Warsaw, Poland.
Department of Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw, Poland.
Front Endocrinol (Lausanne). 2022 Jun 27;13:895507. doi: 10.3389/fendo.2022.895507. eCollection 2022.
Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nervous system. However, overtreatment may have a potential negative impact on further neurodevelopment. We retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021. We evaluated the diagnostic process and treatment up to the age of 3 years. We compared groups of children from the first and the second screening groups (FSG, SSG) in the neonatal screening with an evaluation of ultrasound examination (thyroid dysgenesis vs. gland , GIS). The overtreatment and undertreatment risks were assessed and an analysis of the new TSH thresholds was performed. Treatment was implemented at a median of 9 days of life (3 - 27); 8 days (3 - 17) in FSG and 19 (6 - 27) in SSG. The dose of L-T4 differed between FSG and SSG at all three analysed time points (start of the therapy, 12 months, and 3 years) with significantly higher doses in FSG. The same was observed for the patients with thyroid dysgenesis vs. GIS. Screening TSH level was ≥ 28mIU/l in 91.7% of patients with thyroid dysgenesis in comparison to 74.0% of patients with GIS (p= 0.038). The optimally treated group (fT4 in the upper half of the reference range, according to the guidelines) was up to 58.0% of the children during the follow-up. The risk for overtreatment was present in 1/5 of the study group after 12 months and 1/4 after 3 years of L-T4 therapy. Analysis of new TSH thresholds showed an increased prevalence of mild hypothyroidism, GIS, and either euthyroid state or overtreatment while treating with lower L-T4 doses in comparison to the rest of the cohort. The study confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy. The suspected overtreatment after the first 12 months of L-T4 therapy requires consideration of the earlier diagnosis re-evaluation.
全世界范围内，对先天性甲状腺功能减退症（CH）的新生儿筛查是对新生儿进行主动监测的金标准。及时诊断、随后及时实施治疗以及左甲状腺素（L-T4）的适当剂量对于正常生长和发育，尤其是中枢神经系统的发育至关重要。然而，过度治疗可能对进一步的神经发育产生潜在的负面影响。我们回顾性分析了 2017 年至 2021 年期间，来自波兰华沙母婴研究所内分泌门诊的 99 例 CH 筛查项目确诊为 CH 的新生儿的数据。我们评估了诊断过程和 3 岁以下的治疗情况。我们比较了新生儿筛查中第一筛查组（FSG）和第二筛查组（SSG）的儿童，并对超声检查（甲状腺发育不良与腺体，GIS）进行了评估。评估了过度治疗和治疗不足的风险，并对新的 TSH 阈值进行了分析。中位治疗时间为 9 天（3-27）；FSG 为 8 天（3-17），SSG 为 19 天（6-27）。在所有三个分析时间点（开始治疗时、12 个月和 3 岁），FSG 和 SSG 的 L-T4 剂量均不同，FSG 的剂量明显更高。甲状腺发育不良与 GIS 的情况也是如此。甲状腺发育不良患者的筛查 TSH 水平≥28mIU/l 的比例为 91.7%，而 GIS 患者为 74.0%（p=0.038）。在随访期间，达到最佳治疗效果的（fT4 处于指南规定的参考范围的上半部分）患儿比例高达 58.0%。12 个月后和 3 年后 L-T4 治疗后，有 1/5 的患儿存在过度治疗的风险。新 TSH 阈值的分析显示，与其余队列相比，采用较低剂量的 L-T4 治疗时，轻度甲状腺功能减退症、GIS 以及甲状腺功能正常或过度治疗的患病率增加。本研究证实了 CH 诊断途径的总体有效性和及时实施的 L-T4 治疗。在接受 L-T4 治疗的前 12 个月后出现疑似过度治疗的情况需要重新评估是否更早诊断。
