5-Alpha reductase deficiency

The document summarizes the history and implications of 5-alpha reductase deficiency, an intersex disorder that affects male sexual development due to the enzyme's role in converting testosterone to dihydrotestosterone (DHT). Identified in the 1970s, the deficiency has been linked to over 50 mutations in the 5-alpha reductase-2 gene, leading to a better understanding of male sexual differentiation and the development of treatments using 5-alpha reductase inhibitors. These inhibitors, such as finasteride and dutasteride, have been effective in treating benign prostatic hyperplasia (BPH) and androgenic alopecia, with finasteride showing a 20% reduction in prostate size and improvements in urinary symptoms and hair loss after 12 months of treatment.