Chua Caroline, Gurnurkar Shilpa, Rodriguez-Prado Yahdira, Niklas Victoria
Division of Neonatology, Department of Pediatrics, University of Central Florida College of Medicine, Nemours Children's Hospital, Orlando, FL 32827, USA.
Division of Endocrinology, Department of Pediatrics, University of Central Florida College of Medicine, Nemours Children's Hospital, Orlando, FL 32827, USA.
Case Rep Pediatr. 2015;2015:584735. doi: 10.1155/2015/584735. Epub 2015 Mar 17.
Congenital hypothyroidism (CH) is the most common endocrine disorder affecting the newborn. Universal newborn screening (NBS) has virtually eliminated the static encephalopathy and devastating neurodevelopmental syndrome known as cretinism. This report describes the presentation of an infant referred by the primary pediatrician to our hospital at 12 days of age for confirmatory testing after the NBS was consistent with CH. The infant had hypoglycemia secondary to lethargy and poor feeding and required transfer to the neonatal intensive care unit for worsening abdominal distension despite normalization of serum thyroid function tests following hormone replacement. In particular, the recalcitrant ileus and secondary bowel obstruction resulted in an additional diagnostic workup and lengthened hospital day. Our report highlights the acute gastrointestinal consequences of hypothyroidism despite evidence of effective treatment. We believe that the preclinical detection and immediate therapy for CH have lessened the prevalence of this presentation in general practice, and hence practitioners are less likely to be familiar with its natural history and management.
先天性甲状腺功能减退症（CH）是影响新生儿的最常见内分泌疾病。新生儿普遍筛查（NBS）实际上已消除了称为呆小症的静态脑病和严重的神经发育综合征。本报告描述了一名12日龄婴儿的情况，该婴儿由初级儿科医生转诊至我院，在新生儿筛查结果与先天性甲状腺功能减退症相符后进行确诊检测。该婴儿因嗜睡和喂养不良继发低血糖，尽管激素替代治疗后血清甲状腺功能测试恢复正常，但因腹胀加重仍需转入新生儿重症监护病房。特别是，顽固性肠梗阻和继发性肠梗阻导致了进一步的诊断检查并延长了住院时间。我们的报告强调了甲状腺功能减退症的急性胃肠道后果，尽管有证据表明治疗有效。我们认为，先天性甲状腺功能减退症的临床前检测和立即治疗已降低了这种情况在一般临床实践中的发生率，因此从业者不太可能熟悉其自然病程和管理。
