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目的:探讨女性M cCune-A lbrigh t综合征(M A S)的临床特点及发病机制。方法:追踪分析1例女性M A S患儿的病史资料和辅助检查报告,并进行文献复习。结果:患儿出生时左脸颊和背部左侧多处咖啡牛乳斑;4岁首次阴道流血,6岁开始第二性征发育,生长加速;4~9岁曾5次病理性骨折;9岁起月经周期规则;10岁时血清雌二醇已达成人水平,促黄体生成素和促卵泡生成素正常;B型超声波检查曾显示盆腔左侧卵巢囊肿;左股骨X线片报告符合骨纤维发育不良征象。结论:提高对M A S的认识,注意鉴别诊断,避免漏诊误诊。
Objective: To investigate the clinical features and pathogenesis of female M cCune-Albright syndrome (M A S). Methods: One case of M A S children with history data and auxiliary examinations was traced and reviewed. Results: At the time of birth, there were many cow milk spots on the left cheek and the left side of the back. The first vaginal bleeding occurred at the age of 4, the second sexual characteristics developed at the age of 6, and the growth accelerated. Menstrual cycle rules; 10-year-old serum estradiol levels have been reached, luteinizing hormone and follicle-stimulating hormone normal; B-mode ultrasound showed pelvic left ovarian cysts; left femoral X-ray findings consistent with bone dysplasia Signs. Conclusion: To improve the understanding of M A S, pay attention to differential diagnosis, to avoid misdiagnosis.