ESPE Abstracts

5-alpha reductase converts testosterone to dihydrotestostrone. SRD5A2 mutation leading to deficiency of 5-alpha reductase causes a disorder of 46,XY sex development named 5-alpha reductase type 2 deficiency. Due to deficit of this enzyme, female external genitalia is common sign of disease in 46,XY individuals. SRD5A2 mutations have been reported in different ethnicities. Here, mutations of this gene are reported in Iranian subjects. Affected individuals were subjected to stud...