Faculty of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia.
Institute of Human Genetics, Faculty of Medicine, Pontificia Universidad Javeriana, Bogotá, Colombia.
J Pediatr Endocrinol Metab. 2023 Jul 21;36(8):772-776. doi: 10.1515/jpem-2023-0150. Print 2023 Aug 28.
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).
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.
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).
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.
先天性甲状腺功能减退症（CH）是新生儿甲状腺激素功能减退，是导致神经发育缺陷和长期代谢并发症的主要原因之一。本研究旨在确定 2015 年至 2021 年期间在哥伦比亚波哥大通过强制性报告向公共卫生监测系统（PHSS）报告的 CH 病例的流行率和特征。
本研究采用回顾性病例系列研究。对 2015-2021 年期间在波哥大诊断为 CH 且无论有无甲状腺肿的所有活产儿（LB）（ICD-10 编码 E030 和 E031）进行了分析。
共 201 例，发病率为每 10000LB 3.29 例。92.54%为孤立性 CH 病例，4.48%为综合征病例，2.98%为多发畸形病例。共有 16.92%为小于胎龄儿。平均胎龄为 37.38 周（SD 2.76），26.87%为早产儿。在母亲中，8.96%患有妊娠相关或慢性疾病，最常见的是妊娠高血压疾病和原有甲状腺功能减退症（病因不明）。共有 66.67%的病例在诊断后未接受治疗。平均在出生后 27 天（SD 36.02）和病例向 PHSS 报告后 17 天（SD 36.13）时开始治疗。
观察到的发病率与哥伦比亚卫生当局报告的发病率相似，但低于高收入国家的报告，这突出表明需要改进哥伦比亚 LB 的筛查计划。诊断和治疗的时间延长，这表明需要新的途径来及时治疗 CH。
