一例45，X／46，X，Yqh-混合型生殖腺发育不全患者的临床特征及遗传学分析

Clinical and genetic analysis for a patient with 45, X/46, X, Yqh- and mixed gonadal dysgenesis

目的探讨1例混合型生殖腺发育不全患者的临床及遗传学特征，为患者的临床诊疗提供依据。方法收集患者的临床资料并检测血清激素水平和外周血染色体核型，应用多重PCR检测Y染色体SRY基因及无精症因子（azoospermiafactor，AZF）a、b、c区域缺失情况、SRY全基因测序；全腹CT和肿块病理切片及免疫组化分析。结果患者血清激素检测结果均正常；染色体核型为45，X／46，X，Yqh-；多重PCR结果显示SRY、zFY及AZFa区无缺失，AZFb区和魁强c区均缺失；SRy全基因测序未见突变；全腹CT示盆腔巨大肿块，术后病理诊断为精原细胞瘤，免疫组化结果显示PLAP、CD117均阳性。结论通过对患者临床资料及遗传学的分析，初步诊断患者为混合型生殖腺发育不全；腺体发生恶变，经病理及免疫组化分析为精原细胞瘤。45，X／46，X，Yqh-患者其精原细胞瘤风险与SRY基因的存在具有相关性。

Objective To investigate the clinical and genetic Characteristics of a patient with mixed gonadal dysgenesis. Methods Clinical data was collected. The patient was subjected for serum hormone testing and G-banding chromosomal analysis. Sex-determining region of Y-chromosome （SRY） gene and azoospermia factor （AZF） a, b, c regions were analyzed with multiple polymerase chain reaction （PCR） and whole gene sequencing. Results All serum hormone testing were normal. The karyotype of the patient was 45,X/46,X,Yqh-. PCR has proven the presence of SRY, ZFY and AZFa, and deletion of AZFb and AZFc regions. No mutation was detected in the sequence of the SRY gene. Abdominal computerized tomography has detected a huge mass in the pelvic cavity, which was positive for PLAP and CD117 on immunohistochemistry stain. Conclusion Based on clinical data and result of genetic testing, the patient was diagnosed with mixed gonadal dysgenesis. Pathological and immunohistochemistry analysis of the transformed gland has confirmed the diagnosis of serninoma. For patient with a karyotype of 45,X/46,X, Yqh-, the risk of seminoma may be related with the presence of SRY gene.