My favorite part of practicing obstetrics was the moment of delivery, helping mom lift the baby to her chest and calling out, “It’s girl!” or “It’s a boy!” It was always a privilege to be part of the deeply personal moment when parents met their newborn child, and to share their joy and excitement.
Although parents are anxious to establish that the baby has ten fingers and ten toes, and is healthy in every way, the announcement of gender is often equally important. The knowledge of gender immediately begins to shape the way the parents view the baby.
You’d think that figuring out the gender would be simple, and it usually is, but once in my career I delivered a baby and could not tell whether it was a boy or a girl. I said nothing about the gender and the tension and distress of the parents were palpable.
The baby was born with a condition known as ambiguous genitalia. It’s just what it sounds like: external genitals that appear to be a cross between male and female. How does it happen?
For the first 7 weeks of development, every embryo appears to be female. In the absence of male hormones like testosterone, the baby will continue to have female external genitals. In boys, the testicles begin producing male hormones and the external genitals undergo further development. The clitoris enlarges into the penis, and the labia fuse together in the middle to become the scrotum.
It is possible for a baby to be a true hermaphrodite, having both ovaries and testes, but that condition is very rare. Ambiguous genitalia are usually caused by an inherited hormone problem that interferes with the development of the genitals. The baby is either a boy or a girl because it has either testes or ovaries, but the external genitals look like a combination of both, making it difficult to identify the gender simply by looking.
I had never seen a case of ambiguous genitalia before that night, but like every obstetrician I had read about it. And one of the things that I had read was that if there was any doubt about the gender, the doctor should not attempt to guess. According to a variety of studies, more psychological damage could be done by the doctor wrongly assigning gender and then having to change it, than by admitting that you didn’t know and consulting an expert to make the diagnosis.
Talk about an awkward situation! As the baby’s shoulders were being born I started to call out, “It’s a …” and stopped. I was stunned into silence. The baby appeared to be a girl with a very enlarged clitoris that looked like a penis, but I wasn’t sure. Mindful of what I had read, I didn’t want to guess. I asked the nurse to call the neonatologist to the room and I showed the baby to the parents. Not surprisingly, they were even more stunned than I was. I pointed out that the baby was healthy, with all other body parts intact, and I explained that the baby almost certainly had a treatable hormone problem, but the parents were distraught.
The neonatologist arrived within minutes and carefully examined the baby. He announced that the baby was a girl and that a treatable hormone problem had cause virilization (male appearance) of the external genitals. Ultimately the baby was diagnosed with congenital adrenal hyperplasia (CAH) the most common cause of ambiguous genitalia. CAH has effects in addition to ambiguous genitalia. It also leads to serious kidney problems, so it is very important that it be diagnosed and treated immediately.
After some time with mom and dad, the baby went to the newborn intensive care unit for a complete evaluation. Replacement of the appropriate hormones was started, and because the virilization of the genitals was mild, no surgical treatment was needed. The clitoris shrunk back to normal size and the baby did very well.
The parents, on the other hand, took a little longer to recover. The entire experience was deeply disturbing to them as it would be to any parents. And I never forgot it.
