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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 summarize and compare the clinical features of 45, X / 46, XY mixed gonadal dysplasia (45, X / 46, XY MGD) patients in China, South America and Europe. Methods The clinical features of 7 patients with 45, X / 46, XY MGD admitted to PLA General Hospital were analyzed and compared with those of Chinese patients concluding Beijing Union Medical College Hospital, South America of Brazil and Norway and Denmark in Europe. Results At home and abroad, 45, X / 46, XY MGD patients generally have short stature, multiple facial moles, low presence of hairline and other similar clinical manifestations with Turner syndrome, easy to merge heart, kidney and other internal organs, multiple manifestations For the external genital phenotype is not clear, gonadal manifestations of diverse; laboratory tests showed more gonadotropin levels, sex hormone levels lower. 45, X / 46, XY MGD is mainly for the surgical removal of gonadal tissue at risk of tumorigenesis, the use of growth hormone to promote the patient’s height growth, and the use of sex hormone replacement therapy. However, patients at home and abroad in the treatment of causes and diagnosis of the larger differences in age, mostly people with growth and development delay treatment, foreign patients for various reasons, in addition to growth retardation, but also includes genital malformations, infertility, fetal chromosomal abnormalities. Most foreign patients diagnosed 45, X / 46, XY MGD at prenatal or at birth, while the average age of diagnosis in Chinese patients is 4.7 years longer than that of foreign patients. Conclusions The clinical manifestations of 45, X / 46 and XY MGD patients at home and abroad are not much different from each other. However, the older patients in China are mainly treated with growth retardation.