Disorders in Male Sexual Differentiation Due to 5α-Reductase-2 Deficiency

5α-reductase-2 deficiency caused a disorder in male sexual differentiation, where affected 46,XY individuals had normal to elevated testosterone but decreased dihydrotestosterone (DHT) levels, leading to ambiguous genitalia at birth and often being raised as girls. Despite normal Wolffian differentiation, virilization occurred at puberty due to increased testosterone, prompting many to adopt a male gender role. Affected adults had small prostates, reduced facial and body hair, and no male pattern baldness. Fertility issues arose from genital abnormalities and cryptorchidism, though assisted pregnancies were possible with viable sperm. This condition underscored the critical role of DHT in male sexual differentiation and physiology.