Genital and Reproductive Atypical Development Program Prioritizes
Multidisciplinary Care of Pediatric Patients With Disorders of Sex Development
The Genital and Reproductive Atypical Development (GRAD) program developed at NewYork-Presbyterian Hospital provides world-class care for patients with congenital atypical genitalia and reproductive development.
Both of NewYork-Presbyterian’s pediatric locations, NewYork-Presbyterian/Morgan Stanley Children’s Hospital at Columbia University Medical Center and NewYork-Presbyterian Hospital/Phyllis and David Komansky Center for Children’s Health at Weill Cornell Medical Center, work together to help patients who require treatment for disorders of sex development, OEIS complex (omphalocele-exstrophy-imperforate anus-spinal abnormalities) and anorectal malformations.
Dealing With Stigma
The program was developed in response to increasing demand for specialized care for patients with all disorders of sex development. In 2006, the term DSD—for disorders of sex development—was established to remove the stigma associated with the terminology then used to describe many of the individual disorders. By definition, children with abnormalities in genetic, reproductive or anatomic issues were grouped under one umbrella, yet “DSD” didn’t change that stigma or negative connotation for many of these patients.
Around that time, Dix Poppas, MD, Chief of Pediatric Urology at NYP/Komansky Center and Richard Rodgers Associate Professor of Pediatric Urology at Weill Cornell Medical College, began working with patients with congenital adrenal hyperplasia (CAH). These female babies are born with an adrenal insufficiency that causes high levels of androgens to circulate during fetal development. These otherwise typical female patients develop varying degrees of masculinized genitalia. Dr. Poppas surveyed his patients and found that more than 85% believed that the term DSD was derogatory and negative in their case because there is little question about the gender or gender education of these pediatric female patients.
“Even with severe levels of genital atypia, the patients with CAH tend to be raised as females and do very well,” he said. “Gender identity almost always remains as female, and the gender assignment at birth is rarely questioned.”
In 2012, Dr. Poppas opened the Comprehensive Center for Congenital Adrenal Hyperplasia at NYP/Komansky, which is now the largest referral center for CAH patients and was named the nation’s first Center of Excellence for CAH patients by the Congenital Adrenal Hyperplasia Research Education and Support Foundation. A team of endocrinologists, urologists, surgeons, nurses, dietitians, reproductive specialists and psychologists work together to help patients and their families from childhood to adulthood.
To further remove stigmatizing and negative connotations for patients with other atypical genital disorders, Dr. Poppas and others created the GRAD program as another multidisciplinary center. The program doesn’t include terms related to “sex” or “gender,” and the name implies patients are graduating and moving forward. “Creating this program required a different set of specialists, particularly in surgery, to help these patients,” Dr. Poppas said.
Urology colleagues at NYP/Morgan Stanley Children’s focus on these disorders, which include anorectal malformations and bladder exstrophy. The two campuses work together with endocrinologists, psychologists, geneticists, reproductive physicians, nephrologists, urologists, surgeons, radiologists and anesthesiologists to help patients. “We arrange meetings for the family with specialists as needed to develop a seamless program that gets the children from where they are to where the family would like them to be,” Dr. Poppas said. “We want to explain all of the options the child has—both medically and surgically—and work with the family as a team to help them make the best decision.”
The Ballerina and the Old Lady
In some situations, such as ovotesticular syndrome, microphallus and partial androgen insufficiency, gender assignment after birth can be challenging for parents and siblings to address and understand. Dr. Poppas finds multidisciplinary meetings with family members to discuss potential options to be particularly important in these cases. “Even though the child’s gender has been assigned, it’s not necessarily appropriate to perform surgery on them because they may have a gender conversion when older,” he said. “You don’t want to do something that would limit the future ability to function as the gender they ultimately identify with.”
These initial conversations represent larger ones that will drive future national dialogues about sexual orientation, gender rearing and gender identification. “In a practice like this, you get to see the issues that drive the decisions from parents and adolescents and adults living with these conditions,” Dr. Poppas said. “Little is talked about openly.”
For example, at the Comprehensive Center for Congenital Adrenal Hyperplasia, Dr. Poppas met with a 9-year-old girl who was interested in ballet but in the last year lost interest without explaining why. She had a large clitoris, and when it enlarged in her leotard, she was embarrassed to be around her friends in the locker room. After consultations with the Center’s team, the girl and her parents decided to move forward with surgery. After the procedure and recovery, she wrote a thank-you note to Dr. Poppas, saying the surgery changed her life. Now she wants to be the first girl with CAH to be a prima ballerina. “It brought me to tears,” he said. “People don’t get to hear these stories.”
Dr. Poppas also spoke with a 76-year-old woman who requested surgery late in life because she lives in a small town and was afraid that when she died, the coroner would see her anatomy and tell everyone. “She told me, ‘I don’t want to die like that,’” he said. “People live with this every day and keep it quiet.”
“NewYork-Presbyterian Hospital is an amazing institution to be developing these programs. We have a children’s hospital in a hospital that allows our team to seamlessly transition our patients into adult management with our adult medical and surgical colleagues. This approach would be much more difficult in centers without such a relationship,” Dr. Poppas said.
Minimally Invasive Techniques
In the GRAD program at NYP/Morgan Stanley Children’s, Shumyle Alam, MD, specializes in pediatric pelvic and urogenital reconstruction, particularly related to anorectal malformation, cloaca, cloacal exstrophy and end-stage renal disease.
Dr. Alam, who is Medical Director of Urodynamics and Samberg Scholar at NYP/Morgan Stanley Children’s and Assistant Professor of Urology at Columbia University Medical Center, collaborates with nephrology, general surgery, gynecology, neurology and maternal fetal medicine to treat children. Many times, pediatric patients with complex pelvic issues need help with gastrointestinal development, nephrology and growth to aid incontinence issues. “You can’t make them dry and not address bowel issues,” he said. “We want to treat the whole patient, not distill the patient to parts.”
The GRAD program is gaining recognition and has attracted a high volume of patients. Due to its specialty and interdisciplinary nature, the Center has attracted patients from 40 states and several countries over the past two years. “With so many cases, the whole team becomes better,” Dr. Alam said. “Nurses can better address problems, the care process is better, communication is clearer, the operating room team is cohesive, even security guards know the patients who come to the Center have complex needs.”
In addition, the GRAD program is focusing research on new developments in urology, such as understanding renal disease and prevention of renal deterioration. “What strategies are in place to have kids live without slowly deteriorating renal function?” Dr. Alam asked. “There’s no new magic bullet or new wonder technique.”
Most of all, dedicated facilities such as the Comprehensive Center for Congenital Adrenal Hyperplasia and the GRAD program help physicians and researchers understand the consequences of procedures performed in the past in order to make positive change for the future, Dr. Alam said. The goal is to project care over the long term and demonstrate understanding for what happens during a lifetime of managing disease.
Dr. Alam and others are seeing patients aged 15 to 25 years who need more care beyond what they received as children and adolescents. They’re learning the consequences of medical and surgical decisions made by other physicians years ago. “I saw a 24-year-old who had an operation when he was 6 years old and is coming undone,” Dr. Alam said. “The doctor said he would be fine but doesn’t see patients after age 18. How could he possibly know the outcomes?”
NewYork-Presbyterian Hospital provides pediatric care at NewYork-Presbyterian/Morgan Stanley Children’s Hospital and NewYork-Presbyterian/Phyllis and David Komansky Center for Children’s Health, and is affiliated with two prestigious Ivy League medical schools, Columbia University College of Physicians and Surgeons and Weill Cornell Medical College. |
