The case of the intersex infant — Pt 2

The case of the intersex infant — Pt 2


Sunday, June 19, 2016

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For thousands of years children have been born with what’s called ambiguous genitalia — a condition in which there is incomplete development of the external genitals, and at birth doctors are not able to clearly define a sex. Last week, Dr Leslie Gabay, consultant paediatrician and paediatric endocrinologist, addressed the biology of the condition. This week, he speaks of stigma and social repercussions.
WITH regard to the social repercussions, the sex of a baby is usually the first question friends and family members have after a birth, Dr Gabay said.

“Generally, I recommend that the parents say the infant is undergoing tests to clarify the sex due to incomplete development of the genitals,” he advised.

“If we do this, then there is no stigma. Stigma occurs only when the child goes home with one sex and this is subsequently changed. Hence the importance of early diagnosis.”

Dr Gabay said stigma has to be dealt with by family support, parental education and counselling, where necessary.

He pointed out that it is important to note that the physical development of infants (sex) has nothing to do with the psychological development (gender).

“When we’re looking at the conditions, we’re looking at developmental disorders of sexual maturation. That can give us various issues. When you talk about gender, you talk about how people feel about themselves,” he said. “I may have testes, I may have XY chromosomes, but psychologically I feel like a female. When there’s a disconnection between the physical and the psychological, we call that gender dysphoria where somebody is feeling one way, but has a phenotype that is opposite to how they feel.”

A paediatric endocrinologist looks at what can and can’t be corrected, which is whether your hormones have the capacity to complete your development as a male or female.

“So, for example, we will have an XY male who has testes and is actually making male hormones but he doesn’t have the receptors for them to work on, so he can’t get a complete development into male external genitalia. We sometimes have those same individuals with XY and testes, but their genitals look like females because the testosterone they’re making cannot work to convert the genitals into a male. So there are a number of different medical conditions which all fall under the disorders of sexual maturation, which can give you a disconnect in terms of your chromosomal sex, your gonadal sex and your phenotypic sex,” he said.

He added: “The difference between Caitlyn Jenner’s case, for example, which is a psychological disconnect between the psychology and the physicality of sex, versus when a child has a disorder of development, is vast. So, for example, if you are a boy you have XY, you have testes, you make testosterone but your tissues can’t respond to testosterone — you look like a girl. There’s nothing that I or anybody can do to make you into a boy. So you’re a girl by how you look, except that you won’t have a womb to have babies and therefore you may be able to get some sperm to do IVF, but you’re not going to carry a baby.”

Dr Gabay said most people don’t know what their chromosomes are, so definition of sex is mostly phenotypic — how you look.

“Until you have a baby or get pregnant you don’t know that your ovaries can make eggs, but all along you’re walking through school as a girl. Your chromosomes don’t make you a girl, the fact that you can make eggs or have a womb doesn’t make you a girl,” he said. “When I met you I thought you were a girl and that’s because of how you look. That’s how people walk around looking at individuals. So how we socialise in the world is based on how we look — our phenotype.”

He added that when we want to reproduce and move forward for another generation, that’s when our chromosomes, sperm and ovaries become important.

“I can’t say at six weeks of age how you will feel at five years old. But I can say at six weeks whether your hormones have the capacity to complete your development as a male or complete your development as a female,” he explained.

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