Endocrine Abstracts

5-Alpha reductase deficiency is a rare 46, XY disorder of sex differentation caused by mutations in the 5-alpha reductase type 2 gene (SRD5A2) located on chromosome 2p23. Affected patients have a deficiency of the 5-alpha reductase type 2 enzyme, which becomes partially or totally unable to convert testosterone into dihydrotestosterone, the latter being responsible for the development of the external genitalia, prostate, and urethra in the male fetus. Most affected individuals...