46,XY单纯性腺发育不全合并巨大卵巢无性细胞瘤诊治分析

Analysis of 46,XY pure gonadal dysgenesis associated with gonadal dysgerminoma

目的:分析46,XY单纯性腺发育不全合并卵巢无性细胞瘤临床诊疗方法。方法:对我院收治的1例22岁因盆腔包块就诊的患者的临床资料及相关文献进行回顾性分析,对其诊断、治疗进行阐述。结果:该患者表现型为女性,染色体核型为46,XY,染色体微阵列检测结果显示4号染色体4p16.3区域有约1.08 Mb的重复,9号染色体9p24.3p3p24.1区域有约4.49 Mb的缺失,该缺失区域包含9p缺失综合征,该综合征患者主要表现为性反转,部分或全部性腺发育不良。患者左侧性腺恶变,病理结果为无性细胞瘤。结论:对于母亲有胎儿畸形史、染色体异常家族史,血清学异常、B超表现异常的胎儿,可选择染色体检查及基因检测。对于无青春期月经来潮患者,可通过妇科B超、性腺激素、染色体检查的手段排除染色体异常甚至性腺肿瘤。这类患者一经确诊,应尽早切除性腺。

Objective: To investigate the clinical presentations,diagnosis and therapy for 46,XY pure gonadal dysgenesis associated with gonadal dysgerminoma. Methods: A 22-year-old patient with giant tumor and abdominal pain was reviewed restrospectively. Results: The patient was characterized by 46,XY karyotype and phenotypically female. Chromosomal mcroarray analysis shows a 4. 49 Mb deletion at chromosome 9 p24. 3 p3 p24. 1 encompassing DOCK8,KANK1,DMRT,SMARCA2,VLDLR,KCNV2 and a 1. 08 Mb duplication at chromosome 4 p16. 3. Deletion at chromosome 9 p24. 3 p3 p24. 1 led to sex reverse. Her left gonadal became malignant,which changed to dysgerminoma.Conclusion: Molecular cytogenetic techniques such as chromosomal microarray analysis are useful in the determination of the origin of chromosomal disorder. It is better to carry on those pregnant women with abnormal pregnancy and childbearing. Once diagnosed,these particular patients should remove their gonadals as soon as possible.