McCune-Albright综合征1例报告并文献复习

One Case of McCune-Albright Syndrome Report and Literature Review

目的：探讨女性McCune-Albright综合征（MAS）的临床特点及发病机制。方法：追踪分析1例女性MAS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MAS的认识，注意鉴别诊断，避免漏诊误诊。

Objective：To explore the clinical characteristics and pathogenesls of female McCune Albright syndrome（MAS）. Method：To analyse the data of a girl with MAS,including her intact medical history materials and auxiliary examination reports and combine with literature review. Result..Cafe au lait spots distributed girl＇s left cheek and left side of the back at birth;4 years late, she appeared first vaginal bleeding,since 6 year old,her secondary sex characters developed,helght growth acceleration;between 4 to 9 year old,she has occurred 5 times pathological bone fractures already;her menstrual cycle starts regularity from 9 year old ,and when she was 10 year old,her serum E2 had reached the grown up woman level,but FSH and LH was normal. The B ultrasonic wave inspection demonstrated an ovary cyst at left side in pelvis cavity,X-ray picture of left thighbone conformed to the fibrous dysplasia. Conclusion：Ought to enhance the understanding of the MAS,pay attention to differential diagnosis and avoid missed diagnosis and misdiagnosis.