hrp0082p2-d1-568 | Sex Development | ESPE2014
, Du Min-Lian
, Ma Hua-Mei
, Chen Hong-Shan
, Chen Qiu-Li
Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...