混合性性腺发育不良的临床特点及误诊分析

Q4 Medicine

中华小儿外科杂志 Pub Date : 2020-03-15 DOI:10.3760/CMA.J.ISSN.0253-3006.2020.03.014

Yongchuan Cai, Yu Mao, Jing Fu, L. Dai, Shaoji Chen, Xunjun Wang, Daorui Qin, Jiewen Zheng, Yu Liu, Yunman Tang

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引用次数: 0

摘要

目的探讨混合性性腺发育不良(MGD)的临床特点、误诊原因及对策。方法回顾性分析2013年5月至2018年4月24例MGD患儿的临床资料。平均年龄21(10 ~ 39)个月，平均身高83(71 ~ 97)cm。10名儿童的身高低于同年龄组平均身高2个标准差。有22个男孩和2个女孩。Prader等级为II (n=3)、III (n=15)和IV (n=6)。分析性激素测定结果及性相关基因。对8/10例46,XY染色体患儿进行性染色体荧光原位杂交(FISH)检测。并对性腺标本进行组织病理学检查。结果抗苗勒管激素(AMH)平均水平为69.42(16.57 ~ 189.92)ng/ml。hCG刺激后平均睾酮水平为4.93(0.71 ~ 8.09)nmol/L。WT1基因突变1例患儿确诊为丹尼斯-德拉什综合征(DDS)。核型分别为45、X/46、XY、46、XY 10例(n=12，其中FISH证实为X嵌合XY 8例)、45、X/46、XY/47XYY (n=1)和45、X/47、XYY/ 48xyy (n=1)。48例分为睾丸功能障碍(n=24)、未分化性腺组织(n=1)(以前误诊为卵巢组织)和具有性索样结构的纤维条纹性腺(n=4)。没有发现恶性肿瘤的迹象。结论MGD伴穆勒管残余患儿生殖器模糊现象普遍存在。对于46,xy染色体的疑似MGD患儿，需要进一步进行FISH性染色体检测。条纹性腺中可发现未分化性腺组织，卵巢组织易被误诊为卵睾丸DSD。关键词:性腺发育不良;性染色体;组织病理学

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Clinical characteristics and analysis of misdiagnosing mixed gonadal dysgenesis

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=3), III (n=15) and IV (n=6). The results of sex hormone determination and sex-related genes were analyzed.Fluorescence 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. 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=12, including 8 cases confirmed by FISH as X chimeric XY), 45, X/46, XY/47XYY (n=1) and 45, X/47, XYY/48XYYY (n=1). Forty-eight specimens were classified as dyspastic testis (n=24), undifferentiated gonad tissue (n=1) (previously misdiagnosed as ovary tissue) and fibrous stripe gonads with sex-cord-like structure (n=4). No evidence of malignancy was noticed. 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. Key words: Gonadal dysgenesis; Sex chromosomes; Histopathology

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来源期刊

中华小儿外科杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

0.40

自引率

0.00%

发文量

8707

期刊介绍： Chinese Journal of Pediatric Surgery is an academic journal sponsored by the Chinese Medical Association. It mainly publishes original research papers, reviews and comments in this field. The journal was founded in 1980 and is included in well-known databases such as Peking University Journal (Chinese Journal of Humanities and Social Sciences) and CSCD Chinese Science Citation Database Source Journal (including extended version). It is one of the national key academic journals under the supervision of the China Association for Science and Technology. Chinese Journal of Pediatric Surgery enjoys a high reputation and influence in the academic community. The articles published in this journal have a high academic level and practical value, providing readers with a large number of practical cases and industry information, and have received widespread attention and citations from readers.