摘要
回顾1例原发性闭经的青少年女性腹部彩色超声、染色体核型及外周血染色体畸变检测(芯片)分析的病例资料,复习46,XY女性性反转相关文献,探讨该病的临床病因、诊断及治疗。该患者行腹部彩色超声检查提示未见两性器官;染色体核型分析为46,X,max?;外周血染色体畸变检测(芯片)分析结果为46,XY。推断该患儿临床病因与染色体性别决定性腺分化过程的异常相关。可见传统染色体核型检测具有一定的局限性,利用外周血染色体畸变检测(芯片)分析可明确病因。
By reviewing the clinical data of an adolescent female with primary amenorrhea, including the abdominal color ultrasound, chromosomal karyotype and peripheral blood chromosomal aberration detection(chip)analysis, and by reviewing the related literature, we discussed the clinical etiology, diagnosis and treatment of 46,XY female sex inversion. Abdominal color ultrasound showed no sexual organs;karyotype was 46,X,max?;and chromosomal aberration detection(chip) analysis of peripheral blood was 46,XY. Therefore, the clinical etiology of this child is related to the abnormal process of chromosomal sex-determining gonadal differentiation. Traditional karyotype detection has certain limitations, and the peripheral blood chromosomal aberration detection(chip)analysis can be used to identify the cause.
作者
贺娟娟
刘琨
王佩晨
申梦丹
张学红
HE Juan-juan;LIU Kun;WANG Pei-chen;SHEN Meng-dan;ZHANG Xue-hong(The First School of Clinical Medical of Lanzhou University,Lanzhou 730000,China;The First Hospital of Lanzhou University,Lanzhou 730000,China;School of Nursing,Lanzhou University,Lanzhou 730000,China)
出处
《国际生殖健康／计划生育杂志》
CAS
2022年第5期386-388,共3页
Journal of International Reproductive Health/Family Planning
关键词
异常核型
性反转综合征
核型分析
性发育
原发性闭经
Abnormal karyotype
Sex inversion syndrome
Karyotyping
Sexual development
Primary amenorrhea
