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 higher 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. Key words: 5α-reductase type 2 deficiency; SRD5A2; Diagnosis; Treatment
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