促甲状腺激素不适当分泌综合征的临床特点与鉴别诊断  

Syndrome of inappropriate secretion of thyrotropin:Differential diagnosis

作　　者：王莎莎[1] 李志臻[1] 赵艳艳[1] 张会娟[1] 栗夏莲[1] 秦贵军[1] 郑丽丽[1] 刘艳霞[1] 张梦阳[1] 郭丰[1] Wang Shasha;Li Zhizhen;Zhao Yanyan;Zhang Huijuan;Li Xiaian;Qin Guijun;Zheng Lili;Liu Yanxia;Zhan Mengyang;Guo Feng(Department of Endocrinology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院内分泌科,郑州450052

出　　处：《中华内分泌代谢杂志》2024年第3期212-218,共7页Chinese Journal of Endocrinology and Metabolism

基　　金：河南省医学科技攻关计划省部共建项目-青年项目(SBGJ202103050);河南省高等学校青年骨干教师培养计划(2019GGJS023)。

摘　　要：目的通过全面的症状体征、生化、影像及动态试验分析,探讨垂体促甲状腺激素瘤(TSH瘤)和甲状腺激素抵抗综合征(RTH)的诊断和鉴别诊断。方法回顾性分析2016年7月至2022年9月于郑州大学第一附属医院就诊的14例血清学表现为游离三碘甲状腺原氨酸和(或)游离甲状腺素水平升高而促甲状腺激素浓度不低于正常值患者的临床资料。结果TSH瘤7例、RTH 7例,平均确诊年龄分别为40.0岁和26.6岁。13例患者因甲状腺毒症或偶发心慌症状就诊,部分伴垂体占位效应或生长发育异常;1例患者因颈部增粗就诊。3例TSH瘤患者的血清性激素结合球蛋白升高。垂体磁共振成像显示,7例TSH瘤患者均为大腺瘤、1例RTH患者存在微腺瘤。13例患者行奥曲肽抑制试验均被抑制,但TSH瘤和RTH 24 h/2 h TSH抑制率存在明显差异,分别为46.6%~83.9%和4.6%~28.8%。6例RTH患者存在甲状腺激素受体β亚基突变。结论促甲状腺激素不适当分泌综合征临床较为罕见,主要包括TSH瘤和RTH,两者诊断及鉴别需结合家族史、症状体征、检查检验、动态试验及基因检测等综合研判,其中奥曲肽抑制试验24 h/2 h TSH抑制率可有效鉴别TSH瘤与RTH。Objective Through comprehensive analysis of symptoms and signs,biochemistry,imaging,and dynamic tests,to explore the diagnosis and differential diagnosis of thyrotropin-secreting pituitary adenoma(TSH adenoma)and syndrome of resistance to thyroid hormone(RTH).Methods A retrospective analysis was conducted on clinical data from 14 patients who visited the First Affiliated Hospital of Zhengzhou University from July 2016 to September 2022,exhibiting elevated levels of free thyroxine(FT4)and free triiodothyronine(FT3)in the presence of increased TSH.Results There were 7 cases of TSH adenoma and 7 cases of RTH,with the average age of diagnosis at 40.0 years and 26.6 years,respectively.Thirteen patients showed thyrotoxicosis or occasional palpitation,some with pituitary occupancy manifestations or abnormal growth and development;One patient presented with neck thickening.Sex hormone binding globulin was elevated in 3 cases of TSH adenoma.Pituitary magnetic resonance imaging showed that all 7 cases of TSH adenoma were macroadenomas and 1 case of RTH was microadenoma.The octreotide suppression test in 13 patients was inhibited,but there was a significant difference in the inhibition rate of 24 h/2 h TSH inhibition rate of TSH adenoma and RTH,ranging from 46.6%to 83.9%and 4.6%to 28.8%respectively.Six cases of RTH had thyroid hormone receptorβmutation.Conclusion Syndrome of inappropriate secretion of thyrotropin is a rare condition,mainly including TSH adenoma and RTH.The diagnosis and differentiation of the two conditions require comprehensive assessment incorporating family history,symptoms and signs,laboratory tests,dynamic test,and genetic test.Among these,the 24 h/2 h TSH inhibition rate of octreotide suppression test can effectively distinguish TSH adenoma from RTH.

关 键 词：促甲状腺激素不适当分泌综合征 促甲状腺激素瘤 甲状腺激素抵抗综合征 奥曲肽抑制试验 

分 类 号：R584[医药卫生—内分泌]