The case of the intersex infant — Pt 1

FOR thousands of years children have been born with what’s called ambiguous genitalia.Next week: Social repercussions, stigma and the intersex infant.

“It is really a condition in which there is incomplete development of the external genitals,” explained Dr Leslie Gabay, consultant paediatrician and paediatric endocrinologist.

“So at birth we are not able to clearly define a sex — whether your child is a boy or girl — via observation of the external genitals. That’s when we generally realise there’s a problem. So the baby is either a boy or a girl and when we talk about sex, we have to talk about whether you are phenotypic sex, which is what you look like, then we talk about our gonadal sex — whether we have internal ovaries or we have testes — and in some situations we have a combination of both. Then you have what we call your chromosomal sex, which is whether you’re XX or XY.”

The paediatrician/paediatric endocrinologist further explained that when all of these things come together, you usually have an XY individual who has testes, looks like a male, and is considered a standard, normal boy, and an XX individual who has ovaries with a uterus, looks like a female, and is considered a standard, normal girl.

But Dr Gabay said there may be situations where XX individuals have ovaries and a womb, but externally may look like a boy.

He explained that conditions such as congenital adrenal hyperplasia, where the female baby makes too much male hormones and the external genitalia look abnormal, could be at play, as well as the possibility of a developmental situation where there is an XX chromosome and internally there is one ovary or one testis together, with or without a womb, and a variation of what the external genitalia may look like.

Dr Gabay said, yearly, anywhere from three to six patients will present with the condition locally, most being girls who fall under the category of congenital adrenal hyperplasia because of a hormonal imbalance, which results in the development of the external genitals looking more male.

However, Dr Gabay said these babies are treatable, and depending on what the condition is, you will either have to suppress or add some hormones.

“For example, if we have a male where his pituitary gland has not been sending appropriate messages to his testes to increase his penis size, he may be born with a micro penis. If he has a micro penis, he may need some augmentation to cause penile growth. If, in fact, his hormonal imbalance is permanent, then he may need it to go through puberty and for the rest of his life. So it is really dependent on the nature of the condition. Every child who has ambiguous genitalia or a development disorder has a specific diagnosis that goes along with it, so it can’t be a generalisation. It has to be how we manage this condition versus that condition,” he said.