What is the optimal care of patients with Differences in Sex Development (DSD)? Historically, this was a critical post-partum issue with parents urged to decide sex assignment and treatment before hospital discharge. Unfortunately, this momentous decision was based on rudimentary cytogenetics, limited surgical options, and the since discredited principles popularized by Dr. John Money.

The increasing understanding of the genetic and molecular basis of various diagnoses, the impact of androgens on brain development, significantly improved surgical techniques, and increased recognition of individual experiences from the affected community have led to a significant change in the model of care. In 2006, a Consensus Statement sponsored by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology aimed to improve care of individuals born with DSD and their families. A karyotype-based nomenclature was established which reflected the progress in understanding the molecular and genetic basis for these diagnoses. It also intended to remove gender implications and potentially pejorative language.

The Consensus Statement emphasized the importance of a multidisciplinary care model and parental (and when possible, patient) involvement to best serve this diverse but related collection of diagnoses. While several specialists have historically collaborated in caring for newborns with ambiguous genitalia (primarily, surgeon, endocrinologist, and neonatologist), the establishment of formal clinics with increasing inclusion of specialists addresses not only the medical/surgical issues but also the growing psychological, social, and ethical issues associated with these diagnoses. For example, our clinic meets monthly and includes pediatric urologists, endocrinologists, geneticists, gynecologists, psychiatrists, ethicists, social workers, and, as needed, pediatric surgeons and reproductive endocrinologists. Fellows, residents, and medical students, the future providers for these patients, are included. Patients are referred from within our health system and from other institutions seeking the benefit of our structure for their patients.

The goal of the multidisciplinary team is to educate parents regarding each aspect of care given our current knowledge and to explain the ongoing research for questions which remain unanswered. Urologically, the intent is not to advocate for or against surgery but to provide both a transparent education to parents and developmentally appropriate information to patients as to the current surgical options and outcomes and possible complications and their impact. Providing such an education and addressing all questions honestly and openly, coupled with discussions with the other team members, helps parents determine whether to pursue a surgical option in their child’s specific diagnosis

While this individualized, multidisciplinary approach addresses the majority of issues impacting members of the affected community, several complicated questions remain; examples include:

• Is congenital adrenal hyperplasia (CAH) a DSD? Organizations supporting care of families and children with CAH believe that CAH is distinct from DSD. This is validated in a study by Szymanski et al 2021,¹ where the majority of females with CAH and parents felt CAH should be excluded from the intersex designation.
• Is there optimal timing of vaginoplasty for patients with CAH? The literature supports the conclusions that 1) currently employed surgical techniques offer significantly better outcome than techniques used in prior decades and 2) surgical outcome when performed at a young age are superior to those performed in children at older ages. However, there is a move afoot advocating for delayed, and in some cases, very delayed surgery. There are no published data concerning the long-term outcome of not doing surgery but when parents decide to delay surgery, we respect their decision.
• Among patients with XY DSD, when is gonadectomy indicated and when should surgery be performed? What are the real risks for malignant transformation, and can we devise better cancer screening tools for those who desire to maintain these gonads?
• Which terminology should we use? Recently, dissatisfaction has been expressed within the affected communities regarding nomenclature, specifically with the term disorder; for some, “Differences in Sex Development” is preferred, while others still prefer the older “Intersex” term.²

The benefit of the multidisciplinary model allowing for ongoing familial education and thus management choice is at risk from patient groups seeking to ban surgery. Since 2017, when a Nevada bill sought to prohibit genital surgery, including hypospadias, until the patient could consent failed, similar bills have been put forth in nearly a dozen states with some including prohibition of surgery for “genital atypia.” The basis of these bills stems from anachronistic arguments of poor surgical outcomes, and a management paradigm that has since evolved; in addition, it ignores advances in knowledge, advanced surgical techniques, the momentum for multidisciplinary centers, and family-centered care. Sponsors successfully influence legislators to believe their oversimplification of the diversity and complexity of DSD and that physicians are unilaterally assigning sex and/or gender.

None of these bills have passed, largely due to efforts by the Societies for Pediatric Urology and the AUA to educate legislators on the complexities of the diagnoses, the uniqueness of each individual case, and the impact of limiting choice and abrogating parental rights. Both organizations recently merged their task forces into a single Task Force to address legislative and other challenges limiting access to care and treatment options for patients with DSD.

So, what is the optimal care for patients with DSD? The answer in 2022 is an individualized care plan for the specific diagnosis formulated by the patient and family in conjunction with the multidisciplinary team that allows each family to learn about all currently available options and evolving health information and research.

The optimal care of the future will arise from the commitment of the medical community to work together, such as in the National Institutes of Health-sponsored 15 member DSD Translational Research Network, of which we are a member, to better understand longitudinal outcomes, have genetic and developmental understanding, and to continue open and direct dialogue with patients and their families. This will lead to refinements in recommendations and improvements in current care models. While much work remains in better understanding individual care needs and long-term outcomes for affected individuals and their families, politicization and intrusion in the patient/family-physician relationship harms the benefits of this collaborative future.