To operate or not to operate? Pediatric surgeons are no strangers to thorny clinical dilemmas, but few are as intricate as the decision to perform gender-assignment surgery.
Historically, these calls were straightforward, Cheng says. Babies born with ambiguous genitalia were treated as emergency cases, and the need for prompt gender assignment deemed acute. But over the last 20 years, this sort of “magical thinking” has given way to a more nuanced approach, a shift fueled by new insights into the astounding complexity of sex differentiation and gender development.
“This new knowledge has sparked as many questions as it has answered,” says Madonna, who specializes in feminizing genitoplasty for the treatment of conditions such as congenital adrenal insufficiency, partial or complete androgen insensitivity, and Mayer-Rokitansky-Küster-Hauser syndrome, among others. In the process, Madonna says, it’s transformed the role of the pediatric surgeon in the treatment of children with disorders of sexual differentiation (DSDs).
“Surgeons used to drive much of the medical decision-making, probably because they often had the loudest voices in the room,” Cheng says. “Not so anymore. We function as part of a multidisciplinary team, take a backseat and let families make the call.”
The Lurie Children’s program, which Cheng co-directs with Robert Garofalo, MD, MPH, division chief of Adolescent Medicine at Lurie Children’s, has been ahead of the evolutionary curve on DSD care.
Launched in 2013, the program brings together specialists from general surgery, urology, endocrinology, general pediatrics, genetics and psychology. In addition to Cheng and Madonna, the surgery team also includes Elizabeth Yerkes, MD, and Emilie Johnson, MD, MPH, from the Division of Urology, and Marleta Reynolds, MD, the surgeon-in-chief for Lurie Children’s Department of Surgery.
But what makes the program unique are its two parallel clinical tracks, each focused on the diagnosis and treatment of two separate patient groups: Children with DSDs and children with gender non-conforming behaviors or gender dysphoria. The two populations represent distinct clinical entities, Cheng says, that nonetheless share some psycho-social and medical characteristics. Currently, the gender track offers clinic two to three times a week and sees more than 300 children followed by adolescent medicine, mental health and endocrinology specialists. The DSD arm has clinics twice a month and sees more than 100 patients followed by specialists from urology, surgery, endocrinology and psychology.
But the program’s vision goes beyond delivering optimal clinical care and the latest treatment approaches. Its ambition is to help define best practices through research. To stimulate scientific cross-pollination, the Lurie Children’s team holds quarterly conferences with specialists from all of the above disciplines but also from medical ethics, fertility, radiology and pathology.
Research should help elucidate some lingering unknowns about the long-term effects of medical and surgical treatment in either patient group, as well as questions related to reproduction and fertility.
One of the most pressing questions remains optimal timing of gender-assignment surgery. Surgery timing is predicated on a constellation of factors including the specific condition, the family’s comfort level with waiting, as well as fertility considerations. Conditions that put patients at high risk for gonadal cancer — such as Turner syndrome and certain androgen insensitivity syndromes — tend to warrant earlier intervention for gonad removal.
In the absence of scientific clarity, to operate or not and if so when remains one of the most challenging conundrums of DSD care.
“As surgeons, we have to be open and honest about what we know and what we don’t, yet confident and encouraging enough to help families navigate the uncertainty without paralyzing their decision-making,” Cheng says.
Generally, the best approach is to allow the child to grow into his or her gender and make his or her own decision, says Madonna. Some families are not comfortable waiting that long due to societal pressures. Children with DSD have to exist in a world of clearly defined sex and gender roles, and social stigma, which although rapidly dissipating is still very real.