45,X/46,XY嵌合体性发育异常诊治进展

Progress in Diagnosis and Treatment of 45,X/46,XY Mosaic Disorders of Sexual Development

45,X/46,XY嵌合体性发育异常是临床上比较少见的疾病,其发生机制可能与Y染色体微缺失、Y染色体性别决定基因(SRY)或其他性别决定基因发生突变或调节异常有关。患者的临床表型特点主要为外生殖器及性腺发育异常、身材矮小伴或不伴Turner综合征相关表型异常。细胞及分子遗传学检查可明确诊断,外生殖器男性化评分、激素水平测定、影像检查、腹腔镜探查及性腺活检等对指导后续治疗具有重要意义。在患者的性别分配、激素补充治疗、是否行性腺切除、手术干预的时机及方式等方面仍有很多争议。多学科综合诊断及个体化的治疗原则虽已逐渐成为共识,还应更好地实施。

45,X/46,XY mosaic disorders of sexual development（DSDs） is a rare but very challenging disease,which may be related to the micro-deletions of Y chromosome,and the mutation or abnormal adjustments of SRY and other sex-determination genes. The main characteristics of clinical phenotype are dysplasia of the external genital organs and gonad,short stature and phenotypic abnormalities associated with Turner syndrome. It can be clearly diagnosed through cellular and molecular genetic test. The external masculinization score,hormonal levels,imaging test,laparoscopic exploration and pathology of gonads are of great significance to guide the subsequent therapy. There are still many controversies about the gender distribution,hormone replacement therapy,methods and time of resection of sexual gland and other surgical intervention. The principles of multidisciplinary diagnosis and individualized treatment has gradually become a consensus. This consensus should be better implemented in clinical practice.