Chen Fang-Fei, Zhang Xue-Han, Jiao Yang
Department of General Internal Medicine.
Department of Health Care, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Medicine (Baltimore). 2020 Aug 14;99(33):e21636. doi: 10.1097/MD.0000000000021636.
Turner syndrome (TS) is an anomaly caused by loss of part of or all the X chromosomes. Ankylosing spondylitis (AS) is an HLA-B27-associated autoimmune disease with a male predominance. It is widely accepted that TS patients are at higher risk of autoimmune diseases, but AS in TS patients has only rarely been reported.
A 13-year-old TS patient presented with intermittent pain in both hip joints, and a 27-year-old TS patient presented with thoracic kyphosis and a history of AS.
Both patients were diagnosed with AS according to their symptoms, laboratory results, and imaging.
The first patient was treated with tocilizumab for 8 months, whereas the second patient was treated with diclofenac initially with subsequent surgery for thoracic kyphosis.
Treatment relieved the symptoms of both patients and laboratory parameters improved.
Even though AS has a male predominance, clinicians should be aware that AS and TS may co-exist and that the clinical features are atypical in TS patients with AS.
特纳综合征（TS）是一种由部分或全部X染色体缺失引起的异常疾病。强直性脊柱炎（AS）是一种与HLA - B27相关的自身免疫性疾病，男性患病率较高。普遍认为TS患者患自身免疫性疾病的风险更高，但TS患者并发AS的情况鲜有报道。
一名13岁的TS患者出现双侧髋关节间歇性疼痛，一名27岁的TS患者出现胸椎后凸及AS病史。
根据患者症状、实验室检查结果及影像学表现，两名患者均被诊断为AS。
首例患者接受托珠单抗治疗8个月，而第二例患者最初接受双氯芬酸治疗，随后因胸椎后凸接受手术治疗。
治疗缓解了两名患者的症状，实验室指标得到改善。
尽管AS男性患病率较高，但临床医生应意识到AS与TS可能并存，且TS合并AS患者的临床特征不典型。
