When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD

Abstract

Differences of sexual development (DSD) refers to congenital conditions characterized by discordant appearances of external genitalia with respect to sex chromosomes. We present a case of a 46 XY DSD adolescent with bilateral undescended testes and severe scrotolabial anomalies who was lost to follow-up for several years who recently presented with “recurrent UTIs.” Although the patient desired immediate reconstruction to void while standing, shared-decision making was used to first address his bilateral cryptorchidism, with plans to delay other reconstruction until the patient is older. Pediatric patients with DSD have complicated medical and surgical problems and require a collaborative multidisciplinary team.

Keywords

• Differences of sexual development (DSD)
• Disorder of sexual development
• Adolescent informed consent
• Ambiguous genitalia