Tao Chang,Tian Hongjuan,Gu Weizhong,et al.Preliminary study on pathological features of gonadal gland in children with disorders of sex development and its clinical significance: a report of 106 cases[J].Journal of Clinical Pediatric Surgery,2019,18(03):206-210.[doi:10.3969/j.issn.1671-6353.2019.03.009]
106例性别发育异常患儿性腺病理学特征及其临床意义的初步探讨
- Title:
- Preliminary study on pathological features of gonadal gland in children with disorders of sex development and its clinical significance: a report of 106 cases
- Keywords:
- Gonadal Dysgenesis; 46; XY/Embryo; Gonads; Pathology
- 分类号:
- R726.9;R691.1;R361+.2
- 摘要:
- 目的 总结分析性发育异常（disorders of sex developmemt，DSD）患儿性腺的病理学特点及其临床意义。方法 收集2010年8月至2018年1月间于浙江大学医学院附属儿童医院就诊并获取性腺病理学检查结果的DSD患儿临床资料，同时根据染色体结果分成性染色体DSD组、46，XX DSD组、46，XY DSD组共3组进行对比分析。结果 共有106例DSD患儿获得性腺病理检查结果，肿瘤发生率为1.8%。3组间EMS评分无统计学差异。性染色体DSD组21例，其中卵睾型DSD 10例（47.6%）、原始性腺7例（33.3%）、发育不良卵巢1例（4.8%）、发育不良睾丸3例（14.3%）。46，XX DSD组25例，其中卵睾型DSD 11例（44%）、原始性腺3例（12%）、发育不良卵巢9例（36%）、发育不良睾丸2例（8%）。46，XY DSD组60例，其中卵睾DSD 2例（3.3%）、原始性腺7例（11.7%）、发育不良卵巢5例（8.3%）、发育不良睾丸44例（73.3%）、性腺母细胞瘤2例（3.3%）。不同DSD染色体分型中各种病理类型的构成比存在统计学差异（P<0.05）。结论 对于诊断结果尚不明确、需要接受性腺病理检查的DSD患儿，EMS得分及性腺病理结果与染色体核型不存在较为明显的对应关系。性腺病理检查仍是DSD诊断及治疗的重要评估手段，这对DSD患儿的个体化处理具有重要意义。此外，性腺发生恶变的机率较小。
- Abstract:
- Objective To summarize the pathological features and clinical significance of gonads in children with disorders of sex development (DSD).Methods Clinical data of hospitalized DSD children receiving pathological examination of gonads were collected.According to the results of chromosomes,they were divided into three groups of sex chromosome DSD,46,XX DSD and 46,XY DSD.Results A total of 106 DSD children had gonadal pathologic biopsy/resection results.No significant difference existed in EMS scores among three groups.There were 21 cases in sex chromosome DSD group,including ovotestis (n=10,47.6%),original gonads (n=7,33.3%),dysplastic ovary (n=1,4.8%) and dysplastic testis (n=3,14.3%); 25 cases in 46,XX DSD group,including ovotestis (n=11,44%),original gonads (n=3,12%),dysplastic ovary (n=9,36%) and dysplastic testis (n=2,8%); 60 cases in 46,XY DSD group,including ovotestis (n=2,44%),original gonads (n=7,11.7%),dysplastic ovary (n=5,8.3%) and dysplastic testis (n=44,73.3%) and gonadoblastoma (n=2,3.3%).The overall tumor incidence was 1.8%.Conclusion No consistent correspondence exists between EMS,gonadal pathology and chromosomal karyotype in DSD children requiring gonadal examination for doubtful diagnosis.Gonadal pathology remains an important evaluation tool of diagnosing and treating DSD.It is of vital importance for individualized treatment of DSD children.The incidence of gonadal malignancy is minimal.
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备注/Memo
收稿日期:2018-10-25。
基金项目:国家重点研发计划（编号：2018YFC1002700）
通讯作者:唐达星,Email:tangdx0206@zju.edu.cn