一例性发育异常患儿的临床及遗传学分析

Clinical and genetic analysis of a child with disorder of sex development

目的报道一例性发育异常患儿的诊疗过程和临床特点,并对其进行病理学、影像学以及遗传学研究。方法收集患儿的临床资料,并对其进行染色体核型分析、荧光原位杂交(fluorescence in situ hybridization,FISH)、拷贝数变异分析、SRY基因检测和多重连接探针扩增检测。结果患儿社会性别为男性,因"尿道下裂术后、乳房发育"就诊。影像学检查显示双乳增生,变异精囊腺,幼稚子宫,右侧睾丸体积小。病理学检查表明患儿左侧性腺为卵睾,右侧为睾丸。病理结果显示乳腺纤维腺瘤样变。染色体核型为46,XX。FISH结果显示46,XX.ish(DXZ1×2,SRY×0)。基因检测提示NR0B1、PHEX、Cxorf21、GJB1、PQBP1、COL4A5基因重复,SRY基因存在,UYT基因缺失。结论对于生殖器异常、男性乳腺发育的患者应及早进行影像学、内分泌和遗传学检查,必要时进行基因检测以明确诊断。性发育异常患儿的个体化治疗需要多学科合作。

Objective To report on the diagnosis and treatment process and clinical characteristics of a child with disorder of sex development(DSD)and to conduct pathological,imaging and genetic analysis for the patient.Methods Clinical data of the patient were collected.Genetic testing including chromosomal karyotyping,fluorescence in situ hybridization(FISH),copy number variations(CNVs)analysis,SRY gene detection and multiple ligation-dependent probe amplification(MLPA)were carried out.Results The patient had a social gender of male,with a history of hypospadia and breast development.Sex hormone tests showed slightly raised prolactin.Imaging results showed bilateral breast hyperplasia,abnormal seminal vesicle glands,rudimentary uterus,and underdeveloped right testis.Intraoperative examination revealed that the child had an ovary on the left and a testis on the right.The pathological results showed fibroadenomatoid changes in the breast.The patient had a karyotype of 46,XX.FISH results showed 46,XX.ish(DXZ1×2,SRY×0).Molecular testing showed that NR0B1,PHEX,CXORF21,GJB1,PQBP1,and COL4A5 genes are duplicated.There was a presence of SRY gene and absence of UYT gene.Conclusion DSD should be considered in patients with genital abnormality and male breast development.Ultrasound,sex hormone test and genetic testing should be performed to confirm the diagnosis of DSD,and molecular testing should be performed if necessary.Individualized treatment of DSD patient requires cooperation of multiple clinical disciplines.