Neonatology Department, National Institute for Mother and Child Health "Alessandrescu-Rusescu", 011061 Bucharest, Romania.
Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Medicina (Kaunas). 2023 Oct 23;59(10):1887. doi: 10.3390/medicina59101887.
Congenital hypothyroidism (CH) may have major detrimental effects on growth and neurological development, but early intervention leads to excellent outcomes. CH is classified as transient or permanent, primary or secondary, with primary CH being the most common neonatal endocrine disorder. Most patients with CH do not present any typical signs and symptoms of hypothyroidism shortly after birth, partly due to transplacental maternal thyroid hormone transfer and residual neonatal thyroid function. This paper reports on two CH cases. During the initial Neonatal Intensive Care Unit (NICU) admission phase, CH was not suspected due to nonspecific signs. The distinct characteristics of our cases are as follows: both infants were admitted to the NICU for respiratory distress syndrome, requiring invasive mechanical ventilation, and both were born to diabetic mothers. Following extubation, they both showed similar neurological issues, including reduced muscle tone and feeding difficulties. Initially, those symptoms were attributed to delayed clearance of analgesic and sedative medication. However, symptoms progressively worsened over time. Subsequent tests revealed both meeting CH diagnostic criteria: an unusual ultrasound indicating thyroid agenesis and abnormal hormone levels. Guided by the pediatric endocrinology team, prompt hormonal treatment was started with improvements in neurocognitive function and feeding. Usually, CH screening involves blood samples from healthy newborns at 2-3 days of life. Abnormal results require confirmation, prompting treatment within two weeks. Certain NICU-admitted infants face higher diagnosis delays, as seen in those two cases where CH screening was postponed. Thus, for all neonates with persistent pathologies unresponsive to standard etiological treatment, conducting a comprehensive anamnestic evaluation of the medical history, along with maternal preconceptional and prenatal nutrition, is recommended.
先天性甲状腺功能减退症 (CH) 可能对生长和神经发育有重大不利影响，但早期干预可带来良好的结果。CH 分为暂时性或永久性、原发性或继发性，其中原发性 CH 是最常见的新生儿内分泌疾病。大多数 CH 患者在出生后不久并不会出现任何典型的甲状腺功能减退症状，部分原因是胎盘母体甲状腺激素转移和新生儿甲状腺功能残留。本文报告了 2 例 CH 病例。在最初的新生儿重症监护病房（NICU）入院阶段，由于非特异性体征，未怀疑 CH。我们的病例有以下两个明显特征：两名婴儿均因呼吸窘迫综合征入住 NICU，需要有创机械通气，且均为糖尿病母亲所生。拔管后，他们均出现类似的神经问题，包括肌张力降低和喂养困难。最初，这些症状归因于镇痛和镇静药物清除延迟。然而，症状随着时间的推移逐渐恶化。随后的检查显示，这两个病例均符合 CH 的诊断标准：超声显示甲状腺发育不全，激素水平异常。在儿科内分泌科团队的指导下，立即开始进行激素治疗，神经认知功能和喂养情况均有所改善。通常，CH 筛查包括在出生后 2-3 天对健康新生儿进行血液样本检测。异常结果需要确认，并在两周内开始治疗。某些入住 NICU 的婴儿由于诊断延迟较高，如这两个病例中，CH 筛查被推迟。因此，对于所有对标准病因治疗无反应的持续性病理新生儿，建议进行全面的病史回顾，包括母体孕前和产前营养评估。
