国内外45,X/46,XY混合型性腺发育不全患者临床特征的比较分析  

Comparative analysis on clinical features of 45,X/46,XY mixed gonadal dysgenesis in domestic and foreign patients

作　　者：陈光[1] 杨国庆[1] 谷伟军[1] 窦京涛[1] 杜锦[1] 陈康[1] 臧丽[1] 金楠[1] 吕朝晖[1] 巴建明[1] 陆菊明[1] 李江源[1] 潘长玉[1] 母义明[1] 

机构地区：[1]解放军总医院内分泌科全军内分泌代谢重点实验室,北京100853

出　　处：《解放军医学杂志》2016年第1期62-66,共5页Medical Journal of Chinese People's Liberation Army

摘　　要：目的总结和比较中国、南美洲及欧洲人群45,X/46,XY混合型性腺发育不全(45,X/46,XY MGD)患者的临床特点。方法分析解放军总医院收治的7例45,X/46,XY MGD患者的临床特征,与北京协和医院总结的中国病例、巴西的南美洲及挪威和丹麦的欧洲人群病例的临床特征进行对比分析。结果国内外45,X/46,XY MGD患者普遍身材矮小、面部多痣、存在较低的发际线等与特纳综合征相似的临床表现,易合并心脏、肾脏等内脏畸形,患者多表现为外生殖器表型不明确,性腺表现形式多样;实验室检查多表现为促性腺激素水平升高,性激素水平降低。45,X/46,XY MGD的治疗主要为手术切除有肿瘤发生风险的性腺组织,用生长激素促进患者的身高增长以及使用性激素替代治疗。但国内外患者在就诊原因和诊断年龄上有较大差异,国人多以生长发育迟缓就诊,国外患者就诊原因多样,除生长发育迟缓外,还包括外生殖器畸形、不孕、胎儿染色体异常等。国外患者多在产前或是出生时就诊断45,X/46,XY MGD,而中国患者平均诊断年龄较国外患者大4.7岁。结论国内外45,X/46,XY MGD患者临床表现差别不大,但中国患者就诊年龄较大,主要以生长发育迟缓就诊。Objective To deepen the understanding of 45,X/46,XY mixed gonadal dysgenesis（45,X/46,XY MGD） by summarizing the respective clinical features of patients gathered from China, Brazil, Norway and Denmark suffering from the disease. Methods Comparative analysis was done with the clinical data of 7 patients suffering from 45,X/46,XY MGD diagnosed in the PLA General Hospital of China, and that of other domestic and foreign（Brazil, Norway and Denmark） cases summarized by Peking Union Medical College Hospital. Results Most of the patients of 45,X/46,XY MGD presented the Turner＇s syndrome-like clinical manifestations such as short stature, multiple naevi on face and lower hair line, etc. Cardiovascular and renal malformation could be found in some patients with 45,X/46,XY MGD. Regarding to the external genitalia, 42.9%（n=27） of the patients were considered to be ambiguous, with a vari ety of gonadal expression. Laborator y tests demonstrated elevation of follicle-stimulating and/or luteinizing hormone levels with decreased sex hormone levels in most of the patients with 45,X/46,XY MGD. Recombinant human growth hormone（Rh GH）, testosterone, artificial menstrual cycle and prophylactic gonadectomy were used as primary treatment. There were differences between the domestic and foreign patients in the reason to visit the hospital, and in the age for diagnosis. Chinese patients were always hospitalized for growth retardation, while the foreign patients might go to a doctor for consultation due to various reasons, such as abnormal genitalia, infertility, and fetal chromosomal abnormalities, and many of them might also be diagnosed as 45,X/46,XY MGD in prenatal period or at birth. That was why the average diagnostic age was 4.7 years younger in foreign patients than in Chinese patients. Conclusions No significant difference was found in the clinical characteristics of patients with 45,X/46,XY MGD among different countries and races. But the diagnostic age in Chinese patients is older, and the main reason to cons

关 键 词：45 X/46 XY嵌合体 性腺发育不全 混合性 核型 

分 类 号：R588[医药卫生—内分泌]