Gender identity in patients with 5-alpha reductase deficiency raised as females. Issue 5 (October 2018)

• Record Type: Journal Article
• Authors: Nascimento, R.L.P.; de Andrade Mesquita, I.M.; Gondim, R.; dos Apóstolos, R.A.A.C.; Toralles, M.B.; de Oliveira, L.B.; Canguçu-Campinho, A.K.; Barroso, U.
• Is Part Of: Journal of pediatric urology. Volume 14:Issue 5(2018)
• Page Start: 419.e1
• Page End: 419.e6
• Publication Date: 2018-10
• Subjects: Disorder of sex development -- 5-Alpha reductase deficiency -- Gender identity -- Ambiguous genitali -- Intersex -- Gender; Pediatric urology -- Periodicals; Urologic Diseases -- Periodicals; Urogenital Diseases -- Periodicals; Urologic Surgical Procedures -- Periodicals; Child; Infant; Urologie pédiatrique -- Périodiques; Appareil urinaire -- Maladies -- Périodiques; Pédiatrie; Urologie; Pediatric urology; Périodique électronique (Descripteur de forme); Ressource Internet (Descripteur de forme); Electronic journals; Periodicals; Electronic journals; 618.926
• DOI: 10.1016/j.jpurol.2018.08.021
• Languages: English
• ISSNs: 1477-5131

Abstract

Summary: Background and objective: 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. Methods: 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. Results: 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. Conclusion: 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.