John Park, M.D., forms long-term relationships with his patients at the DSD clinic.
A Vital Assist
Focus on disorders of sex development helps patients and families find answers
issue 1 | winter 2012
Is it a boy or girl? Sometimes, the answer to this basic question about a new baby is "We aren't sure yet."
Disorders of sex development (DSD) is a broad term for a variety of congenital disorders that affect the formation or function of the sex organs, whether due to chromosomal, hormonal or other factors. While certain disorders are diagnosed prenatally or at birth, some don't manifest until adolescence. Although some DSD are extremely rare, many are common. The overall incidence of DSD approaches 1 percent of the population.
However, DSD conditions involve body parts and complex issues that parents and healthcare providers find difficult to discuss and manage. At C.S. Mott Children's Hospital, an interdisciplinary DSD clinic offers comprehensive medical, surgical and psychosocial support for children with DSD and their families.
A patient's story
After Ruth's* first prenatal sonogram at nineteen weeks, she and her husband were devastated to learn that not only did their baby have extensive physical malformations, but sex organs were not discernable. After further tests and scans, the baby was diagnosed with a cluster of rare congenital malformations called OEIS (omphalocele, bladder exstrophy, imperforate anus and spine defect). An amniocentesis determined Ruth's baby had XY sex chromosomes.
"Hands down, this was the most devastating news of our lives," recalls Ruth, who lives in a suburb of Detroit. "Our local hospital had only seen one other case of OEIS, and so they referred us to Dr. John Park at Mott because of his expertise in this area. We were amazed at the coordinated effort between the U-M surgeons, and also at the amount of support we had from Dr. Park and all the other providers."
Each child diagnosed with DSD is unique, and the DSD clinic's mission is to partner with patients and their families to provide comprehensive coordinated care that meets their individual long-term physical, social and emotional needs. However, there is still a huge need for education about DSD, even among healthcare providers.
"Many providers in a community hospital simply don't know how to react when a baby with a DSD is born," says John Park, M.D., a pediatric urologist. "So we've embraced the mission to provide education about DSD to become a resource for the entire state. When more people understand that DSD are not so rare and that we can help these children, we can start eliminating the stigma and misconceptions about DSD."
The DSD clinic focuses on care for children with these and similar diagnoses:
- congenital adrenal hyperplasia
- androgen insensitivity syndrome
- disorders of androgen synthesis: 5-alphareductase deficiency and 17-beta hydroxysteroid dehydrogenase deficiency
- disorders of anti-Müllerian hormone or receptor
- disorders of gonadal development
- mixed gonadal dysgenesis
- severe hypospadias
- cloacal and bladder exstrophy
- cloacal malformation
- Mayer-Rokitansky-Küster-Hauser syndrome/vaginal agenesis
"Because of the wide range of physical, emotional and social issues that DSD patients face, no one physician or provider has all the answers," says Park. "So our interdisciplinary clinic includes pediatric specialists from endocrinology, genetics, urology, gynecology, general surgery, psychology, pathology and plastic surgery, as well as our Child and Family Life Team."
The clinic also has a dedicated, certified sex therapist and a social worker providing age-appropriate care, support, education and resources to both patients and families. The DSD clinic strives to provide meaningful and ongoing services for the patients from the newborn period to the teenage years, and then help in the transition to adulthood.
Continuing down the path
Ruth's son was delivered at 36 weeks by C-section, as he required immediate surgery on an anterior omphalocele, cloacal exstrophy and an anterior myelomeningocele. Since then, Park has performed multiple surgeries on him, and last summer Park created a functional bladder from part of the patient's stomach and small intestine. Although Ruth's son doesn't have a penis, for the first time in his 5-year life, he is continent.
"When we were pregnant, Dr. Park prepared us to make a decision about whether to raise him as a boy or girl," says Ruth. "My husband and I both felt strongly that God made him a boy, and we didn't feel we should change that. Right now, he isn't 'aware' that he doesn't have a penis. I don't know how we will approach it, but that is why we have Dr. Sandberg. Fortunately, our son has an amazing personality. He's got a great attitude about everything in life, despite his challenges."
As Ruth's son gets older, he will benefit from the life-long relationship with the DSD team that the clinic encourages with all its patients. They will guide him through the various clinical and psychosocial dynamics he will encounter in childhood as he begins to understand his condition, as he enters adolescence and when he eventually starts to have an interest in intimate relationships. The team will even be there in adulthood, to help him deal with issues such as family building with his condition.
"As a parent faced with this diagnosis, you feel completely isolated, because nobody talks about DSD," explains Ruth. "The amazing physicians and surgeons at Mott have opened up opportunities for our son and for us. For example, they organized a 'family day' for DSD patients and their families. It was just the greatest thing to sit in a room and talk with other families and the doctors about things that would help our children. We are grateful to the DSD clinic for creating that opportunity."
*name changed to protect the privacy of the patient