Hasan Karzan M, Mohammed Bilal A, Ahmed Shaho F, Ali Rawa M, Abdulla Berwn A, Tahir Soran H, Kakamad Fahmi H, Salih Abdulwahid M
Smart Health Tower, Madam Mitterrand Street, Sulaimani, Kurdistan, Iraq.
Shorsh General Teaching Hospital, Pathology Lab, Sulaimani, Kurdistan, Iraq.
Ann Med Surg (Lond). 2022 Apr 6;77:103569. doi: 10.1016/j.amsu.2022.103569. eCollection 2022 May.
The coexistence of thyroid dysgenesis and resistance to thyroid hormone (RTH) is a very rare occurrence. The current study aims to report a unique case of thyroid agenesis with RTH in a pediatric patient.
A 5-year-old male patient presented with poor feeding, excessive somnolence, and a noticeable umbilical hernia since the age of 2 months. He was initially diagnosed as a case of congenital hypothyroidism, and since then, he had been placed on thyroid replacement therapy. No further investigations were conducted until the age of 5 years. Recent laboratory findings revealed an elevated TSH level (42.41 μIU/mL). X-ray examination showed delayed bone age (30 months). Ultrasound (US) examination demonstrated the complete absence of thyroid lobes, isthmus, and ectopic thyroid tissue, but small 2.7 x 2.5-mm non-echoic, cystic, and hypo-vascular nodules were seen in the bed of the right thyroid lobe. The patient was kept on thyroid replacement therapy (levothyroxine) and under close follow-up. On follow-up, the patient's thyroid function status revealed resistance to exogenous thyroid hormone.
Thyroid agenesis is the complete absence of the thyroid gland. Meanwhile, RTH is a hereditary disease characterized by decreased sensitivity of body tissues to thyroid hormone. Most cases of RTH are due to mutations in the gene encoding for THRβ. However, recently RTH due to THRα mutations has also been reported. The presentations of RTH cases in general and with thyroid dysgenesis are quite heterogenous.
Although the combination is exceedingly rare, thyroid agenesis can coexist with RTH.
甲状腺发育不全与甲状腺激素抵抗（RTH）并存的情况极为罕见。本研究旨在报告一例小儿患者甲状腺缺如合并RTH的独特病例。
一名5岁男性患者自2个月大起出现喂养困难、过度嗜睡及明显的脐疝。他最初被诊断为先天性甲状腺功能减退症，自那时起开始接受甲状腺替代治疗。直到5岁之前都未进行进一步检查。近期实验室检查结果显示促甲状腺激素（TSH）水平升高（42.41 μIU/mL）。X线检查显示骨龄延迟（30个月）。超声（US）检查显示甲状腺叶、峡部及异位甲状腺组织完全缺失，但在右侧甲状腺叶床可见2.7×2.5毫米的小无回声、囊性及低血管结节。患者继续接受甲状腺替代治疗（左甲状腺素）并密切随访。随访时，患者的甲状腺功能状态显示对外源性甲状腺激素有抵抗。
甲状腺缺如是指甲状腺完全缺失。同时，RTH是一种遗传性疾病，其特征是身体组织对甲状腺激素的敏感性降低。大多数RTH病例是由于编码甲状腺激素受体β（THRβ）的基因突变所致。然而，最近也有因甲状腺激素受体α（THRα）突变导致RTH的报道。一般RTH病例以及合并甲状腺发育不全的病例表现相当异质。
尽管这种组合极为罕见，但甲状腺缺如可与RTH并存。
