On February 23, a new multidisciplinary clinic at Children's Hospital Boston's saw its first patients with what are called disorders of sexual differentiation (DSD). The program
primarily serves infants, children, adolescents and young adults with genitourinary or hormonal disorders or other medical issues that may make it difficult to determine their sex, and that may
interfere with sexual and reproductive function. Girls with
congenital adrenal hyperplasia (CAH), for example, are
overexposed to masculinizing hormones in utero and may be
born with the genital appearance of boys.
While Children's has long treated the physical manifestations of DSDs, the new clinic is also designed to address psychosocial issues that may arise from genital and gonadal variability. In
addition to urologists, endocrinologists and geneticists, the team includes social workers, nurses who have run support groups and
a research psychologist.
In the past, DSDs were regarded as medical emergencies that needed to be addressed immediately. Parents were not always
involved in the decision-making process, which varied from center to center. In recent years, however, adult patients have formed
national advocacy groups that have changed the thinking about how to manage DSDs, and today, families are intimately involved
in the decisions.
"It's more important to make the best decision than to make the fast one," says Norman Spack, MD, of the Endocrinology division at Children's, who co-directs the new clinic with David Diamond, MD, of Urology. "In some cases, it can take weeks to decide what's best for the patient," he says. "It's a team decision now, and no
matter what's done, the parents need support and the children
need to be followed." Follow-up research will be conducted to
determine the efficacy of the approaches taken and patient
satisfaction as they enter adult life.
As more prenatal ultrasounds and chromosome analyses are
performed because of advanced maternal age, DSDs are being anticipated even in the womb. "The chromosomes and genital appearance may be discordant," says Dr. Diamond. "It may not be exactly clear what is going on until the child is born, and this can produce great family anxiety." In such instances, the program serves an important teaching function.
Unique in the Western hemisphere, the clinic will also care for children and young adults who present as transgendered—those who have no known anatomic or biochemical disorder, yet feel like a member of the opposite sex. Such feelings can emerge early, even in the preschool years, and can cause considerable psychological distress. For that reason, transgendered young people are often
assumed to have a psychiatric disorder and are placed on
psychotropic medications. By late adolescence, a high percentage have attempted suicide.
"This will be the first major program in the country that is not only treating DSDs, but also welcoming young people who appear to be transgendered and are considering medical protocols that might help them," says Dr. Spack.