摘要5α-还原酶2缺乏症(5αt-reductase type 2 deficiency,5α-RD2)为常染色体隐性遗传的单基因遗传病,是46,XY性发育异常疾病(46,XY disorders of sex development,46,XY DSD)的常见类型之一.该病由5α-还原酶2缺乏引起,临床表现复杂多样,与46,XY DSD其他类型有较高的重叠,诊断比较困难.早期诊断和治疗对患者的预后有很大的帮助.该文通过回顾文献,总结5α-还原酶2缺乏症的诊疗新进展,辅助临床对于该病的诊断和治疗.

abstracts5α-reductase type 2 deficiency (5α-RD2)is a monogenic genetic disease with autosomal recessive inheritance.It is a common type of 46,XY disorders of sex development and is caused by deficiency of 5α-reductase type 2.Due to the complex and diverse clinical presentations and nigher overlaps with other types of 46,XY DSD,it is difficult to diagnose.Early diagnosis and treatment may improve the prognosis.In this paper,we review the literature and summarize the progress of the diagnosis and treatment of 5α-reductase type 2 deficiency,aiming to facilitate clinical diagnosis and treatment of the disease.