5-alpha-reductase deficiency

Also known as Guevedoce.

The result of a lack of 5-alpha-reductase production during gestation and childhood, this deficiency is a form of being intersexed (or, to be somewhat archaic, a form of pseudohermaphrodism). 5-alpha-reductase is necessary for the conversion of testosterone into dihydrotestosterone.

5-alpha-reductase deficiency was studied by Julianne Imperato-McGinley in the Dominican Republic (where it is usually found).

People with this condition:

• are genetically male (have an XY chromosome pair)
• have a female phenotype at birth and through childhood
• have cryptorchidism (undescended testes)
• experience masculinisation (including deepening of voice, increase in musculature]) and the development of male genitalia (descending of testes, penis growth) at puberty when testosterone levels increase
• do not develop normal pubertal acne, facial or body hair, a receding hairline or a developed prostate, which are all DHT-dependant
• ejaculate, once puberty is reached, but are usually infertile
• usually have hypospadia (urethral opening on the underside of the penis)
• almost always take on male gender identity upon changes in physicality; this has been used to argue the position that brain androgenisation is more important to the ultimate development of gender identity than is socialisation, though critics assert that the male privilege present in this culture may affect the adolescent's willingness to adopt it