Turner综合征合并1型糖尿病一例及文献复习

Turner综合征患者除了典型的身材矮小、性腺发育不良等临床表现外,还有发生自身免疫疾病及产生自身免疫抗体的倾向.本文报道1例Turner综合征合并1型糖尿病、桥本甲状腺炎的病例,除了使用胰岛素替代治疗外,根据病例特点使用了人源化抗CD20单克隆抗体行免疫治疗,治疗后患者胰岛功能好转,有效减缓了免疫损害导致的胰岛功能迅速衰竭.总结该病例及相关文献,我们推测Turner综合征患者发生自身免疫性疾病的风险高于正常人群,该类患者在临床诊治过程中,除了身材矮小、性腺发育不良等缺陷,尚需关注其他自身免疫性内分泌疾病的发病风险.对于Turner综合征患者需长期随访,监测自身免疫相关抗体,早期干预,以防止不可逆转的自身免疫性破坏.

A case report of Turner syndrome with type 1 diabetes mellitus

Turner syndrome is a condition with the most common clinical features,including reduced final height,gonadal dysgenesis,and so on.In addition,an increased risk of autoimmune disease has been observed among the patients with Turner syndrome.Here we present a unique case of Turner syndrome with a group of autoimmune diseases,including type 1 diabetes and Hashimoto thyroiditis,whose islet function recovered partly after treatment with humanized anti CD20 monoclonal antibody （rituximab）.On the base of this case report and relevant papers,we infer that：as individuals with Turner syndrome are prone to develop autoimmune conditions,the risk of endocrine autoimmune diseases should be paid more attention during the clinical process of diagnosis and treatment.The Turner patients should be observed with multiple auto-antibodies during the long-term follow up,clinical intervene should be implemented even beforc thc irreversible immune disturbance.