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作 者:秦雪艳[1] 陆文丽[1] 王俊祺[1] 王伟[1] 董治亚[1] 肖园[1] 倪继红[1] 陈凤生[1] 王德芬[1] Qin Xueyan Lu Wenli Wang Junqi Wang Wei Dong Zhiya Xiao Yuan Ni Jihong Chen Fengsheng Wang Defen.(Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, Chin)
机构地区:[1]上海交通大学医学院附属瑞金医院儿内科,200025
出 处:《中华内分泌代谢杂志》2016年第12期995-998,共4页Chinese Journal of Endocrinology and Metabolism
基 金:上海市科委重大项目-儿童性早熟综合干预治疗的多中心临床研究(12411950400);上海市科委项目-新一代核酸扩增技术探索性早熟的分子病因研究(14411968500)
摘 要:目的探讨McCune-Albright综合征(MAS)的临床特点及分子病理机制,以期为MAS精准医疗提供指导。方法回顾性分析41例MAS女童的临床资料及基因检测结果。结果(1)MAS女童具有提前出现的性征发育及高雌二醇、低LH和FSH、子宫、卵巢容积明显增大的外周性性早熟表型。(2)41例MAS女童中17例存在GNAS1基因突变,总阳性率41.5%,其中三联症组为66.7%,二联症组为56.3%,一联症组为12.5%。在具有骨纤维结构不良患儿中可见78.6%存在突变阳性,而伴皮肤咖啡牛奶斑仅见55.0%阳性。儿童性早熟伴骨纤维结构不良是临床诊断MAS的重要依据,而皮肤牛奶咖啡斑似乎并不是MAS特异性的重要表现。结论MAS女童临床以不典型者居多,性早熟伴骨纤维结构不良是临床诊断MAS的重要权重因素。GNAS1基因筛查可有助于MAS临床精准诊断。Objective To investigate the clinical characteristics and molecular pathological mechanism of McCune-Albright syndrome (MAS) in order to provide a guidance for the precision medicine of MAS. Method The clinical data and genetic findings of 41 patients with MAS were analyzed retrospectively. Results ( 1 ) MAS girls had the phenotype of peripheral precocious puberty with premature sexual development and high estradiol, low LH and FSH, and the increased volume of uterus and ovary. (2) In 41 MAS cases, there were 17 cases with GNAS1 gene mutation, and the total positive rate was 41.5% , of which the classic triad was 66.7% , two signs 56.3% , and 12.5% in only one classic sign. GNAS1 gene mutation was found in 78.6% of patients with polyostotic fibrous dysplasia of bone, while only 55.0% in patients with cafe au lair skin spots. Children with precocious puberty and fibrous dysplasia of bone is an important basis for clinical diagnosis of MAS, but cafe au lait skin spots does not seem to be the specifical manifestation of MAS. Conclusion Clinically MAS was lack of typical clinical manifestations, and the most important clinical weight factor for the diagnosis of MAS was peripheral precocious puberty with fibrous dysplasia of bone. GNAS1 gene screening may be helpful to improve the clinical accurate diagnosis of MAS.
关 键 词:McCune.Albright综合征 临床分析 GNAS1基因 基因突变
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