46,XX/46,XY嵌合体性发育异常诊治进展

Progress in diagnosis and treatment of 46,XX/46,XY mosaic/chimeric disorders of sexual development

46,XX/46,XY嵌合体性发育异常在临床上很少见,可能是配子异常受精所致。患者的临床表型特点主要是内外生殖器发育异常、不孕不育等。细胞及分子遗传学检查可明确诊断,影像学检查、腹腔镜探查、多组织活检等对指导后续治疗具有重要意义。随着产前诊断技术的进步,越来越多的嵌合体在胎儿期被发现,这对产前咨询提出了一大挑战。

46,XX/46,XY mosaic/chimeric disorders of sexual development（DSDs）is rare,which may results from abnormal gametes fertilization. The main characteristics of clinical phenotype are dysplasia of the gonad and external genital organs and infertility. It can be clearly diagnosed by cellular and molecular genetic test. Imaging test,laparoscopic exploration and multiple tissue biopsy is vital to guide the subsequent therapy. With the progress of prenatal diagnosis technology,a growing number of mosaicism/chimera was found in the prenatal period,which presents a great challenge for prenatal counseling.