July O'Brien Kaitlin, Ceremsak John J, Gallant Jean-Nicolas, Ma Connie, Morris Emily A, Grace Matthew R, Zuckerwise Lisa C, Gregory Justin M, Belcher Ryan H
Department of Otolaryngology-Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, TN, USA.
Pediatric Otolaryngology-Head and Neck Surgery Division, Monroe Carrell Jr. Hospital at Vanderbilt, Nashville, TN, USA.
Ear Nose Throat J. 2025 Nov;104(2_suppl):236S-240S. doi: 10.1177/01455613231189116. Epub 2023 Jul 27.
Congenital hypothyroidism rarely causes a clinically significant neck mass in newborns. We present the case of a newborn with congenital hypothyroidism and significantly enlarged goiter and discuss imaging considerations and medical and surgical management. This infant was prenatally discovered to have a midline neck mass on 28 week ultrasound measuring 6.0 cm × 3.4 cm × 5.8 cm. Diagnostic cordocentesis demonstrated elevated thyroid-stimulating hormone (TSH, 361 µIU/mL). Maternal evaluation for thyroid disease and antithyroid antibodies was negative. A Cesarean section at 38 weeks gestation was recommended due to hyperextension of the fetal neck. The infant was intubated for respiratory distress. Postnatal magnetic resonance imaging revealed a 5.5 cm × 4.4 cm × 7.6 cm goiter and laboratory studies confirmed the diagnosis of primary hypothyroidism (TSH 16.7 µIU/mL). Treatment was initiated with intravenous levothyroxine and transitioned to oral supplementation. Serial ultrasounds showed decreased goiter volume over several weeks, with recent volume per lobe being 22% and 44% of original volume. This case demonstrates the importance of prompt diagnosis and initiation of thyroid hormone replacement, allowing for significant goiter regression without surgical intervention and ensuring normal growth and neurodevelopmental outcome. Surgical management should be considered for those with persistent compressive symptoms despite optimal medical management.
先天性甲状腺功能减退症在新生儿中很少引起具有临床意义的颈部肿块。我们报告一例患有先天性甲状腺功能减退症且甲状腺显著肿大的新生儿病例，并讨论影像学检查要点以及药物和手术治疗。该婴儿在孕28周超声检查时被发现中线颈部有一肿块，大小为6.0 cm×3.4 cm×5.8 cm。诊断性脐静脉穿刺显示促甲状腺激素升高（促甲状腺激素，361 μIU/mL）。对母亲进行的甲状腺疾病和抗甲状腺抗体评估为阴性。由于胎儿颈部过度伸展，建议在妊娠38周时行剖宫产。婴儿因呼吸窘迫而行气管插管。产后磁共振成像显示甲状腺肿大小为5.5 cm×4.4 cm×7.6 cm，实验室检查确诊为原发性甲状腺功能减退症（促甲状腺激素16.7 μIU/mL）。开始静脉注射左甲状腺素治疗，随后转为口服补充。连续超声检查显示甲状腺肿体积在数周内减小，最近每叶体积分别为原始体积的22%和44%。本病例表明及时诊断和开始甲状腺激素替代治疗的重要性，可使甲状腺肿显著消退而无需手术干预，并确保正常生长和神经发育结局。对于尽管进行了最佳药物治疗仍有持续压迫症状的患者，应考虑手术治疗。
