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83例性发育异常患儿的性腺探查结果分析 被引量:3

Gonadal exploration of patients with disorders of sex development
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摘要 目的:探讨性发育异常(DSD)患儿接受性腺探查及性腺活检手术的必要性。方法:回顾性分析2010年1月~2017年12月在我院行性腺探查及性腺活检的DSD患儿,统计分析患儿外周血染色体核型、手术中探及性腺位置及性腺活检结果,通过Fisher精确检验分析外周血染色体核型及性腺位置与性腺活检结果相关性。结果:83例患儿行性腺探查及性腺活检手术。年龄1.5~16.0岁,中位年龄2.5岁。其中包括46,XX DSD 24例,46,XY DSD 40例,性染色体异常型19例。经探查确定性腺位于腹腔内67侧、腹股沟区61侧、阴囊内38侧。腹腔内及腹股沟区性腺活检结果包括睾丸、卵巢、卵睾及发育不良性腺,阴囊内为睾丸及卵睾。经过Fisher精确检验分析,外周血染色体核型和性腺活检结果二者间具有显著性相关性(P<0.001),性腺位置和性腺活检结果二者具有显著性相关性(P<0.001)。结论:双侧性腺位置和染色体核型与DSD患儿的性腺活检结果虽有一定相关性,但不能依据性腺位置及核型直接判断性腺成分,对于病因不明的DSD患儿均需要行性腺探查及性腺活检手术。 Objective: To discuss the necessity of gonadal exploration and gonadal biopsy on patients with disorders of sex development(DSD). Method: A retrospective analysis of patients with DSD who underwent gonadal exploration and biopsy in our hospital from January 2010 to December 2017 was done. The chromosome karyotype, gonadal location and gonadal biopsy results were summarized. The correlation between chromosome karyotype in peripheral blood or gonad location and results of gonad biopsy was analysed by Fisher’s exact test. Result: Eighty-three children underwent gonadal exploration and biopsy in this study, aging 1.5-16.0 years old with a median age of 2.5. The karyotypes were 46, XX in 24 patients, 46, XY in 40 patients and sex chromosome DSD in 19 patients. Sixty-seven sides gonadal located in abdomen, 61 sides were found in inguinal region and 38 sides in scrotum. The results of intraperitoneal and inguinal gonad biopsy included testis, ovary, ovotestis and hypoplastic gonad, and testis and ovotestis in scrotum. The results of Fisher’s exact test showed that there was a significant correlation between chromosome karyotype in peripheral blood and gonad biopsy results(P<0.001), and the same result between gonad location and gonad biopsy results was found(P<0.001). Conclusion: Although both the location and karyotype of bilateral gonads are correlated with the results of gonad biopsy in patients with sexual dysplasia, the composition of gonads can not be directly determined according to the location and karyotype of gonads. Gonadal exploration and gonadal biopsy are necessary for patients with agnogenic DSD.
作者 梁 吕逸清 谢华 黄轶晨 余玲 李晓溪 孙莉 李嫔 龚艳 LIANG Yan;LYU Yiqing;XIE Hua;HUANG Yichen;YU Ling;LI Xiaoxi;SUN Li;LI Pin;GONG Yan(Department of Urology,Shanghai Children's Hospital,Shanghai Jiao Tong University,Shanghai,200062,China;Department of Endocrinology,Shanghai Children's Hospital,Shanghai Jiao Tong University)
出处 《临床泌尿外科杂志》 2020年第1期17-20,25,共5页 Journal of Clinical Urology
关键词 性发育异常 性腺活检 儿童 disorders of sex development gonadal biopsy children
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