以骨骼发育异常为主要表现的男性McCune-Albright综合征2例报道  

Two cases of McCune-Albright syndrome in men with skeletal dysplasia as the main presentation

作　　者：宋丽平 张莹[1] 郭城[1] 王烨[1] SONG Liping;ZHANG Ying;GUO Cheng;WANG Ye(Department of Pediatrics,the Third Hospital of Hebei Medical University,Shijiazhuang,Hebei 050000,China)

机构地区：[1]河北医科大学第三医院儿科,河北石家庄050000

出　　处：《中国优生与遗传杂志》2022年第10期1818-1821,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 探讨男性McCune-Albright综合征(MAS)的临床特征。方法 回顾分析2例以骨骼发育异常、牛奶咖啡斑为主要临床表现的男性MAS患儿的临床资料,并复习相关文献。结果 本文2例男性患儿均以骨骼系统异常就诊,查体可见牛奶咖啡斑,其中一例患儿双髋正位片:双侧股骨颈干角变小,右侧髂骨、扫及双侧股骨上段骨质膨胀,内见磨玻璃密度影,考虑上段多发骨纤维结构不良;基因检测发现致病性突变位点位于c.602G>A(p.R201H),明确诊断为MAS。另一例患儿X线:颅骨,左侧锁骨、肱骨、肩胛骨,双股骨骨质膨胀性改变,其内可见玻璃样高密度影,考虑多发纤维结构不良,全身骨显像提示全身骨多处异常所见,结合病史及影像学检查,符合MAS。基因检测未发现与疾病表型相关的明确致病性变异。结论 男性MAS以骨纤维发育不良、牛奶咖啡斑为主要表现,男性性早熟较为罕见,对于以骨骼发育异常的男性患儿需警惕MAS。Objective To investigate the clinical features of male McCune-Albright syndrome(MAS). Methods To retrospectively analyze the clinical data of 2 male children with MAS with abnormal skeletal development and café-au-lait spots as the main clinical manifestations, and review related literature. Results The two male children were both diagnosed with abnormal skeletal system, and the physical examination showed café-au-lait spots. One of the two male patients showed bilateral femoral neck shaft angles were reduced, right iliac, scan and bilateral femurs the bone in the upper segment was swollen, and the ground glass density shadow was seen in the upper segment. Multiple bone fibrous dysplasias in the upper segment were considered. Genetic testing found that the pathogenic mutation site was located at c.602G>A(p.R201H), and the diagnosis was MAS. X-ray of another child: skull, left clavicle, humerus, scapula, and femoral bone with expansile changes, with glass-like high-density shadows in them. Considering multiple fibrous dysplasia, whole-body bone scintigraphy showed multiple abnormalities in the whole body. The findings, combined with the medical history and imaging studies, were consistent with MAS.Genetic testing did not reveal a clear pathogenic variant associated with the disease phenotype. Conclusion Male MAS is mainly manifested by fibrous dysplasia and café-au-lait spots. Male precocious puberty is relatively rare. MAS should be vigilant in male children with abnormal skeletal development.

关 键 词：MCCUNE-ALBRIGHT综合征 骨纤维结构发育不良 男性 

分 类 号：R725.9[医药卫生—儿科]