罕见46,XX性发育睾丸疾病合并前列腺生殖细胞肿瘤病例的遗传学及病理学特征分析

Genetic analysis and pathological features of one 46, XX testicular disorder of sex development cases with prostate germ cell tumor

目的分析一例46,XX性发育睾丸疾病合并前列腺生殖细胞肿瘤患者的临床特点、遗传学和病理学特征并探讨其致病原因。方法对患者进行临床特征分析及病理学检查,用染色体核型分析及荧光原位杂交技术分析其遗传学特征。结果患者身高偏矮、双侧睾丸小、乳房轻度增大,血清甲胎蛋白浓度显著升高,卵泡刺激素、促黄体生成素、泌乳素升高,睾酮水平偏低。染色体核型为46,XX,荧光原位杂交提示一条X染色体短臂末端上存在SRY基因。病理学诊断为前列腺原发性生殖细胞肿瘤,主要为卵黄囊瘤。结论确诊一例46,XX性发育睾丸疾病合并原发前列腺生殖细胞肿瘤病例,丰富了该疾病的基因和表型谱,并为该病治疗提供一些思路。

Objective To analyze the clinical and genetic characteristics of a 46,XX case of testicular disease with prostate germ cell tumor and explore its pathogenesis.Methods The clinical features and pathological examination of the patient were reviewed,and the genetic basis was analyzed by chromosome karyotyping analysis and fluorescence in situ hybridization.Results The patient had slightly short stature,small testicles and large breast.Serum alpha fetoprotein was significantly increased,along with increased follicle stimulating hormone,luteinizing hormone and prolactine,and lower level of testosterone.The karyotype was 46,XX.Fluorescence in situ hybridization has identified the presence of SRY gene at the end of short arm of one X chromosome.The pathological diagnosis was primary germ cell tumor of prostate,mainly of yolk sac tumor type.Conclusion A rare case of 46,XX testicular disorder of sex development combined with germ cell tumor of the prostate was diagnosed,which has enriched the phenotype spectrum of the disease and provided clues for the treatment of the disease.