Congenital hypothyroidism in Bogotá, Colombia: a current description (2015–2021)

Abstract

Objectives Congenital hypothyroidism (CH) is a decrease in thyroid hormone function in newborns, being one of the leading causes of neurological deficits and long-term metabolic complications. This study aims to determine the prevalence and characteristics of CH cases in Bogotá, Colombia, between 2015 and 2021, as notified through the mandatory report to the Public Health Surveillance System (PHSS). Methods A retrospective cross-sectional study was conducted. All live births (LB) with a weight ≥500 g, diagnosed with CH with or without goiter (ICD-10 codes E030 and E031, respectively) in Bogotá during 2015–2021 were analyzed. Results For a total of 201 cases, the prevalence rate was 3.29 cases per 10,000 LB. 92.54 % were classified as isolated cases of CH, 4.48 % syndromic, and 2.98 % polymalformated. A total of 16.92 % was small for gestational age. The mean gestational age was 37.38 weeks (SD 2.76), 26.87 % were preterm births. Among the mothers, 8.96 % suffered from pregnancy-related or chronic diseases, the most common being hypertensive disorders of pregnancy and pre-existant hypothyroidism (without clarity concerning etiology). A total of 66.67 % of cases did not receive treatment after diagnosis. Treatment was established by an average age of 27 days after birth (SD 36.02) and 17 days after case notification to the PHSS (SD 36.13). Conclusions Observed prevalence is similar to the rate reported by health authorities in Colombia but inferior to reports from high-income countries, highlighting the importance of improvements in the Colombian LB’s screening program. Time to diagnosis and treatment was observed to be prolonged, suggesting that new pathways are required for timely CH treatment.

Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022

“…CH是因先天因素使甲状腺发育异常引起甲状腺激素分泌不足或合成障碍，导致生长发育迟缓和智力障碍等后果的一种疾病，是儿童最常见的内分泌疾病之一，全球范围发病率为1/4000~1/1400，近年来其发病率呈快速上升趋势 ［ 5 - 6 ］ 。本文资料显示，1999—2022年浙江省新生儿筛查共确诊8924例CH患儿，总发病率为1/1336，高于全国发病率。研究报道CH发病率增高潜在的原因可能与人口统计学的变化、TSH召回值降低（每降低1 mIU/L，CH发病率增加2.96%）、早产儿存活率增加、筛查覆盖率增高和母亲甲状腺功能、年龄、孕期有机氯暴露有关 ［ 7 - 9 ］ 。浙江省新生儿筛查CH发病率较高可能与以下原因相关：①浙江省积极推进样本信息化物流质控项目，采用专用医疗冷链将标本从采血机构直接送至省筛查中心实验室，安全、快速并最大程度保证了标本质量；②检测方法不断改进，具有更高的灵敏度，保证了结果的准确性；③本筛查中心采用的筛查召回标准为TSH在9 μIU/mL及以上，根据Ford和LaFranchi ［ 10 ］ 的研究结果，TSH筛查值从20~25 μIU/mL降低到6~10 μIU/mL时，CH发病率增加2.20倍，因此TSH筛查值降低可能使得CH的诊断增加；④社会以及家长越来越重视新生儿筛查，从而使召回率提高，增加了确诊率。本文资料还显示，在浙江省的10个地市中，山区衢州、丽水地区CH发病率相对较高，而山区地理环境下人群碘的摄入量较其他沿海地区低，因此CH发病可能与人群碘缺乏也相关。…”