Evolving indications for surgical intervention in patients with differences/disorders of sex development: Implications of deferred reconstruction

Abstract

Rare medical conditions are difficult to study due to the lack of patient volume and limited research resources, and as a result of these challenges, progress in the care of patients with these conditions is slow. Individuals born with differences of sex development (DSD) fall into this category of rare conditions and have additional social barriers due to the intimate nature of the conditions. There is also a lack of general knowledge in the medical community about this group of diverse diagnoses. Despite these limitations, progress has been made in the study of effective ways to care for patients who are born with chromosomal or anatomical differences of their internal reproductive organs or external genitalia. Advocacy groups have placed a spotlight on these topics and asked for a thoughtful approach to educate parents of newborns, medical providers, and the adolescents and young adults themselves as they mature.¹ There is growing interest in the approaches to surgical reconstruction of the genitalia and the management of internal gonads, specifically the timing of procedures and the indications for those procedures.² Advocates suggest deferring surgical procedures until the affected individual can participate in the decision-making process. This approach requires a roadmap for addressing the long-term implications of delayed surgical management. Presented here is a review of the specific issues regarding the complex management of the various categories of DSD.

Keywords: Clitoroplasty; Deferred surgery; Disorders of sex development; Gonadectomy; Shared decision-making; Urogenital sinus; Vaginoplasty.

Figure 1:

a) Urogenital sinus with long common channel. b) Urogenital sinus with short common channel (Used with permission, Rink/Cain; Illustrations by Stephan Spitzer)

Figure 2:

Omega-shaped flap on perineum for urogenital sinus mobilization (Used with permission, Rink/Cain; Illustrations by Stephan Spitzer)

Figure 3.

Clitoral reduction with partial removal of the corpora cavernosa (Used with permission, Rink/Cain; Illustrations by Stephan Spitzer)