1临床资料患者女，24岁，因“发作性四肢无力13年加重2个月伴原发性闭经”入院。患者11岁起反复出现四肢麻木无力，双手持物落地，双下肢不能站立，伴头痛、短暂意识丧失，无发热、呕吐、抽搐、大小便失禁。至18岁未来过月经，腋毛、阴毛缺如，乳房不发育。曾行染色体检查为46X 1 Clinical data Female patient, 24 years old, due to “exacerbated limb weakness 13 years aggravate 2 months with primary amenorrhea” admission. Patients at age 11 repeatedly appear limb numbness weakness, both hands landing, both legs can not stand, with headache, loss of short-term consciousness, no fever, vomiting, convulsions, incontinence. Menstruation to the age of 18 in the future, armpit hair, pubic hair missing, breast undeveloped. Chromosome examination was 46X