Twin problems

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It had not been an easy road for these parents. At first, the mother was told that she was carrying fraternal twins—a boy and a girl. At birth, both babies appeared to be virilized girls. Both carried an XX karyotype; both had a uterus and ovarian gonads. But each little girl had a small phallus and fused labia. The most likely explanation for these findings was exposure to high levels of testosterone during the first trimester of pregnancy.

The parents had been to see any number of pediatric subspecialists: an endocrinologist, a psychiatrist, a psychologist, and two urologists. The girls had numerous evaluations, everything from scores of blood tests to ultrasounds to voiding studies. They were scheduled for additional diagnostic procedures to delineate the exact anatomical structures in preparation for their upcoming reconstructive surgery.

A team meeting was advised to bring all of the specialty services together with the parents in order to make sure that the game plan was clear to everyone. Because I had seen the twin girls at the majority of their well-child checkups, I was asked to attend.

I reviewed the salient data in the girls' medical records before heading down the interstate to Children's Hospital. I checked in at the desk, found my way to the urology offices on the second floor, and took a seat. The parents of the twins arrived shortly afterward.

“How are you folks holding up?” I asked.

“Okay,” the father said. “We're waiting for the results from an ACTH challenge test. I guess they just wanted to make sure that they weren't overlooking anything.”

“I imagine they'll let you know today. What's your understanding of the procedure that's coming up next week?”

“We're not sure,” the father says. “I guess they want to have a better look at the girls' inner parts so they can see what they will need to have done when the time comes.”

“That's right. The girls will be under anesthesia, but the procedures are straightforward. They want to map out the anatomy before moving to reconstructive surgery.”

“Do you know if they will need more than one surgery to fix things?”

“They might need some subsequent surgery as they get closer to puberty. That's a long way off, but it's something to keep in the back of your mind.”

“We would just like to get this over and done with so they will look like the little girls that they are.”

“Certainly, and that will happen soon enough. Did the psychiatrist talk with you about gender identity—how the girls might come to view themselves as they grow up?”

“Yes, I guess they could be little tomboys, maybe more rough and tumble than your average little girl.”

“That's true. It could also mean that when they become sexually mature, they might exhibit a preference for same-sex relationships.” I paused a minute to let my words sink in. “Do you understand what I said?”

The father nodded his head.

“There's no way to know the ultimate outcome for sure. We just don't have enough data on folks that have gone through similar experiences to know.”

A man in blue surgical scrubs appeared. “Our meeting is convening,” he said, “if you'll just step this way.”

We followed him down the corridor into the conference room. We took our seats; there were introductions all around.

The man in the blue surgical scrubs opened up the meeting. “We thought it would be good to review what we know about the girls' anatomy first,” he said. “As you know, these twins have been virilized by excessive testosterone exposure in utero, resulting in labial fusion and development of Prader phallic structures...”

I glanced at the faces of the father and the mother. I sensed that they were lost in the jargon. Neither one said a word. Afterward, the endocrinologist reviewed the biochemical physiology. The psychiatrist spoke about genetic imprinting, and then the chief of urology recapped the presentation.

“I must say,” he concluded, “that in these team meetings, the primary care pediatrician generally shows up less than 10% of the time. You can count yourselves most fortunate that your babies' doctor came to the meeting today.”

The father looked at me and smiled. “Yes, we already know that. He's been there for us every step of the way.”

After the parents were ushered out, the chief of service called for a short debriefing. “Thank you all for coming,” he said. “I was really happy with the way things came together. You all did a great job presenting the data. I mean, this is what great medicine is all about—getting everyone on the same page to care for not only the patient, but the whole family.”

I couldn't have agreed with him more. I only wished that they had rehearsed their lines in the vernacular, so to speak.

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