甲状腺激素不敏感综合征合并自身免疫性甲状腺疾病5例报道并文献复习

摘要

目的：分析甲状腺激素不敏感综合征（THIS）合并自身免疫性甲状腺疾病（AITD）的临床特点。方法回顾性分析2011年9月—2014年4月西安交通大学第一附属医院诊断的5例THIS合并AITD的临床资料，所有患者均进行甲状腺功能、垂体核磁共振、T3抑制试验，明确THIS诊断，并对1例提取外周血DNA进行了TRβ基因突变分析。结果3例患者临床表现为全身代谢缓慢，甲状腺功能检查提示游离T3、T4以及TSH水平明显升高，T3抑制试验提示垂体及外周均对TH抵抗，甲状腺穿刺活检示大量淋巴细胞浸润，滤泡上皮细胞嗜酸性变，吸碘率降低，提示为全身型THIS合并桥本甲状腺炎（ HT），给予不同剂量的甲状腺激素治疗后，乏力、畏寒及甲状腺肿大症状均好转；2例患者临床表现为全身代谢加快，游离T3、T4以及TSH水平轻微升高，T3抑制试验提示垂体对TH抵抗，甲状腺穿刺活检活检示滤泡上皮过度增生并淋巴细胞浸润，吸碘率正常，提示垂体型THIS合并HT和GD，仅对症处理后均好转。结论 THIS随病程延长更容易合并AITD，随着患者年龄的增长临床表现及甲状腺功能可能发生变化，临床诊治THIS应考虑合并AITD的可能。%Objective To analyze the clinical features of thyroid hormone insensitive syndrome ( THIS) with autoim-mune thyroid disease ( AITD) .Methods Retrospective analysis of the clinical data of 5 cases of AITD from September 2011 to April 2014 at Xi'an Jiaotong University First Affiliated Hospital, all patients were performed function of thyroid and pituitary magnetic resonance, T 3 inhibition test.DNA beta gene mutation analysis was performed in 1 patients with TR from peripheral blood.Results The clinical manifestations of 3 patients with systemic slow metabolism and thyroid function tests suggest that free T3, T4 and TSH levels were significantly increased, suggesting that the pituitary and peripheral resistance of TH, T3 in-hibition test, thyroid biopsy showed massive lymphocytic infiltration of follicular epithelial cells, eosinophilic change, iodine uptake rate decreased, suggesting the body type THIS with Hashimoto thyroiditis (HT), after different doses of thyroid hor-mone therapy, fatigue, chills and goiter symptoms were improved;2 cases of clinical manifestations of systemic metabolic rate increased, slightly elevated levels of TSH and free T3, T4, which suggested that pituitary resistance to TH inhibition T3 test, thyroid biopsy showed follicular epithelial hyperplasia and infiltration of lymphocytes, the iodine absorption rate was normal, suggesting that THIS combined with HT and GD in pituitary, only disappeared after symptomatic treatment.Conclusion It demonstrated that the THIS with the duration of the disease was more likely to merge with AITD, with the growth of the patient's age, the clinical manifestations of thyroid function may change, clinical diagnosis and treatment of the THIS should consider the possibility of combining AITD.