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目的:探讨混合性性腺发育不良(mixed gonadal dysgenesis,MGD)患儿的临床特点、导致误诊的原因及处理方式。方法:回顾性分析2013年5月至2018年4月收治的24例MGD患儿的临床资料。24例患儿的年龄在10~39个月,平均21个月;身高71~97 cm,平均83 cm,其中10例患儿身高低于同年龄段平均身高2个标准差;就诊时22例抚养性别为男,2例抚养性别为女。Prader分级Ⅱ级3例,Ⅲ级15例,Ⅳ级6例。分析患儿性激素测定、性发育相关基因检测结果。对8例常规核型分析性染色体为46,XY的患儿采用荧光原位杂交(fluorescence in situ hybridization,FISH)方法复测,光学显微镜观察患儿切除或活检的性腺组织。结果:本组患儿AMH值在16.57~189.92 ng/ml,均值为69.42 ng/ml;hCG刺激实验后睾酮值在0.71~8.09 nmol/L,均值为4.93 nmol/L。基因检测发现WT1基因致病突变,合并低蛋白血症和蛋白尿1例,诊断为Denys-Drash综合征。核型分析示,12例核型为45,X/46,XY,10例为46,XY(其中8例完成FISH检查证实性染色体为X嵌合XY),1例为45,X/46,XY/47,XYY,1例为45,X/47,XYY/48,XYYY。24例均存在阴道,22例探查到子宫或半角子宫。送检48份性腺组织,其中24份有发育不良的睾丸,其中1份睾丸性腺中可见未分化性腺组织。19份有纤维条索性腺,1份未分化性腺组织曾被误诊为卵巢。4份可见条索状性腺伴性索状结构。所有性腺组织均未见肿瘤征象。结论:MGD患儿以外阴性别模糊多见常伴苗勒管残件。临床中对考虑诊断MGD的患儿不能仅采用染色体核型分析,可疑者应完善外周血FISH性染色体嵌合型检查。MGD患儿性腺病理检查可见未分化性腺类型,病理易将其识别为卵巢组织,从而将混合性性腺发育不良误诊为卵睾型DSD。“,”Objective:To explore the clinical characteristics and causes and countermeasures of misdiagnosing mixed gonadal dysgenesis (MGD).Methods:From May 2013 to April 2018, clinical data were retrospectively reviewed for 24 MGD children. The average age was 21(10-39) months and the average height 83(71-97) cm. Ten children fell below the average height of the same age group by 2 standard deviations. There were 22 boys and 2 girls. The Prader grade was II (n n=3), III (n n=15) and IV (n n=6). The results of sex hormone determination and sex-related genes were analyzed.Fluorescence n in situ hybridization (FISH) for sex chromosome was further tested in 8/10 children with 46, XY chromosome. And gonad specimens were evaluated for histopathology.n Results:The average level of anti-mullerian hormone (AMH) was 69.42(16.57-189.92) ng/ml. The average testosterone level was 4.93(0.71-8.09) nmol/L after hCG stimulation. WT1 gene mutation was detected in 1 child with a definite diagnosis of Danis-Drash syndrome (DDS). The karyotypes were 45, X/46, XY, 10 cases of 46, XY (n n=12, including 8 cases confirmed by FISH as X chimeric XY), 45, X/46, XY/47XYY (n n=1) and 45, X/47, XYY/48XYYY (n n=1). Forty-eight specimens were classified as dyspastic testis (n n=24), undifferentiated gonad tissue (n n=1) (previously misdiagnosed as ovary tissue) and fibrous stripe gonads with sex-cord-like structure (n n=4). No evidence of malignancy was noticed.n Conclusions:Ambiguous genitalia is common in MGD children with Muller tube remnant. For suspected MGD children with a 46, XY chromosome, further FISH test for sex chromosome is warranted. And undifferentiated gonad tissue may be found in a streak gonad and ovary tissue is probably mistaken for making a misdiagnosis of ovotesticular DSD.