Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, Shandong Institute of Nephrology, Jinan, China.
Department of Endocrinology and Metabology, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan, China.
Front Endocrinol (Lausanne). 2023 Feb 10;14:1131044. doi: 10.3389/fendo.2023.1131044. eCollection 2023.
Resistance to thyroid hormone (RTH) and pituitary tumors are both rare diseases, and the differential diagnosis of these two diseases is difficult in some cases. There are also patients who have both conditions, making diagnosis more difficult. To better understand this aspect, we analyzed the clinical characteristics and gene mutations of RTH coexisting with pituitary tumors.
Database retrieval was conducted in the PubMed, Cochrane Library, and SinoMed databases, and the search contents were case reports or case series of patients with RTH coexisting with pituitary tumors. The demographic, clinical manifestations, and imaging characteristics of pituitary tumors and gene mutations were summarized.
Thirteen articles involving 16 patients with RTH coexistent with pituitary tumors, consisting of 13 female patients, one male patient, and two patients with unknown sex, were included. The patients were 10 to 79 years old and most patients were 41-55 years old (43.75%). The 16 patients were from seven different countries and three continents (Asia, the Americas, and Europe). All the patients showed an abnormal secretion of TSH, and five patients underwent transsphenoidal surgery. Finally, four patients were pathologically confirmed to have TSHoma. A total of 11 different mutations occurred at nine amino acid sequence sites (251, 310, 344, 347, 383, 429, 435, 438, and 453). Two different mutations occurred in both the no. 435 and no. 453 amino acid sequences. Fourteen patients provided their treatment histories, and all had undergone different treatment regimens.
Patients with both RTH and pituitary tumors had multiple clinical manifestations and different thyroid functions, imaging characteristics of pituitary tumors, genetic mutations of , and treatments. However, due to the limited number of cases, the patients were mainly women. Further studies with more cases that focus on the mechanism are still needed.
甲状腺激素抵抗（RTH）和垂体肿瘤均为罕见疾病，两者的鉴别诊断在某些情况下较为困难。有些患者同时患有这两种疾病，这使得诊断更加困难。为了更好地了解这方面的情况，我们分析了同时患有 RTH 和垂体肿瘤的患者的临床特征和基因突变。
在 PubMed、Cochrane Library 和 SinoMed 数据库中进行数据库检索，检索内容为同时患有 RTH 和垂体肿瘤的患者的病例报告或病例系列。总结了垂体肿瘤的人口统计学、临床表现和影像学特征以及基因突变。
纳入了 13 篇涉及 16 例同时患有 RTH 和垂体肿瘤的患者的文章，包括 13 例女性患者、1 例男性患者和 2 例未知性别的患者。患者年龄为 10-79 岁，多数为 41-55 岁（43.75%）。这 16 例患者来自七个不同的国家和三个大洲（亚洲、美洲和欧洲）。所有患者均表现出 TSH 异常分泌，其中 5 例患者接受了经蝶窦手术。最终，有 4 例患者的病理结果证实为 TSH 瘤。共在 9 个氨基酸序列位点（251、310、344、347、383、429、435、438 和 453）发现了 11 种不同的突变。两种不同的突变发生在第 435 和第 453 位氨基酸序列上。14 例患者提供了他们的治疗史，所有患者均接受了不同的治疗方案。
同时患有 RTH 和垂体肿瘤的患者具有多种临床表现和不同的甲状腺功能、垂体肿瘤的影像学特征、基因突变和治疗方法。然而，由于病例数量有限，患者主要为女性。仍需要进一步开展更多病例的研究，重点关注发病机制。
