New progress in diagnosis and treatment of 5α-reductase type 2 deficiency / 国际儿科学杂志

ABSTRACT

5α-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.