Gender identity in patients with 5-alpha reductase deficiency raised as females

5-Alpha reductase type 2 deficiency (5-ARD) is a rare disorder of sex development. The lack of 5-alpha reductase, an enzyme that converts testosterone into dihydrotestosterone, results in external genitalia that may appear female, or predominantly male, albeit undervirilized, or, more often, ambiguous.

This study describes a series of patients with 5-ARD raised as female, focusing on aspects related to gender identity. Following a retrospective chart review, patients with 5-ARD were invited to return to the clinic to enable their gender identity to be assessed using an 11-item structured in-house questionnaire. The Golombok-Rust Inventory of Sexual Satisfaction was applied to patients who had initiated their sexual life.

Six patients aged >15 years with 5-ARD and raised as female were included. Most patients were diagnosed late: two before and four after puberty. The mean length of the phallus was 2.8 cm (0.5-5.0). Reasons for seeing a doctor included genital appearance (n = 3), amenorrhea/absence of breast development (n = 2), and changes in gender role attitudes (n = 1). According to the gender identity assessment, 4 patients identified as female, 1 as male, and 1 as both genders. Only the patient identified as male requested gender re-assignment. Of the two patients who had initiated their sexual life, sexual satisfaction was found to be good in one and poor in the other due to vaginal discomfort during intercourse.

In the present series, the majority of undervirilized patients with a diagnosis of 5-ARD raised as female were in complete conformation with being female and described themselves as heterosexual. The more virilized patients were those least in conformity with their female-assigned gender.