What androgen insensitivity syndrome is like for me

Meet a 25-year-old female shares her experiences of living with an intersex condition. Born a woman, she carries XY, not XX, sex chromosomes

Tell me a little about yourself

I’m 25, I live with my boyfriend in London and work in fashion as a product developer. I’ve got a condition called androgen insensitivity syndrome (AIS).

What is AIS?

It’s a genetic disorder that makes you insensitive to androgens. It means that during development the foetus starts along a male line, then deviates, so you’re born a woman with internal male gonads [testes] and no uterus.

There are two varieties of AIS – complete and partial. I–ve got complete AIS, so on the outside I’m completely female, but in terms of my chromosomes I’m an XY female instead of an XX female.

When did you know you were affected by this?

My parents knew from when I was around two. I was born with a hernia which was removed at seven months, I then got another at about one year old, so the doctors did tests to find out why – and that’s when they found out that I had XY chromosomes. I always knew there was something wrong with me because I had to go to hospital a lot for tests and checks. My parents told me everything when I was nine and old enough to understand.

What do you understand about the medical causes?

Something went wrong, it’s a natural thing. There’s no cause for me.

If you do, how do you explain/describe your condition to other people?

I’ve described it to a few people, depending on who they are. I’ve told my boyfriend everything, and I’ve told a few friends over time. I start by saying I can’t have children. That’s the crux of it, and the easiest way to describe it. When I get closer to someone one I explain about the Y chromosome and the gonads. It’s on a need-to-know basis. I prefer to be judged on myself, and be normal.

How does it affect your life?

Day to day it doesn’t really affect me. The only thing I’ve noticed is having to take the medication. From the age of eleven I’ve been taking oestrogen to promote growth and development, but now I’ve got oestrogen implants, which are much easier. A sexual relationship was hard at first, but I had medical help and it dissipated.

Lots of women who found out later in life that they have AIS have a crisis about their identity. But I always had complete honesty from my parents and doctors, so I never struggled with who I am. It doesn’t hold me back; it’s not obvious when I look in the mirror, so it’s not an issue in everyday life.

What is the most difficult thing about being affected by AIS?

Now I’m living with my boyfriend, the knowledge that I’ll never be able to have children is quite upsetting. It’s the only thing that ever really upsets me. It’s the most difficult thing to come to terms with. It’s also quite difficult having to go to the doctors regularly, to be poked and prodded. You feel a bit like a medical experiment, but you get used to it.

Is anyone else in your family affected?

There’s no history of it in my family. It’s just a freak genetic anomaly.

Are you a member of any kind of support group?

Yes, the AIS Support Group. Being in a room with a group of people who all fully understand how you’re feeling means you feel less alienated.

 

Androgen insensitivity syndrome  the essentials

How common?

Current estimates for complete AIS are around 1 in 20,000 births (of genetic males).

Major effects:

Individuals have an XY genotype but female external genitalia. The uterus is absent, patients do not have periods and are infertile. In complete AIS there are always testes within the body; these are usually removed before adulthood.

Causes:

Mutations in the androgen receptor gene, which is carried on the X chromosome. In complete AIS, body cells do not respond at all to androgens (male hormones), in partial AIS, they are partially sensitive.

Is it inherited?

In some cases, the mutation arises during conception. In others, the mutated gene is inherited as part of the X chromosome, in an X-linked recessive manner. So, if a woman carrying one affected X chromosome has a baby, there is a:

  • 1 in 4 chance that she will have a child (XY) affected by AIS
  • 1 in 4 chance she will have a daughter (XX) who carries the gene (but is unaffected)
  • 1 in 4 chance that she will have an unaffected daughter (XX)
  • 1 in 4 chance that she will have an unaffected son (XY)

Is a prenatal genetic test available?

Prenatal diagnosis can be made through chorionic villus sampling (testing a piece of the developing placenta) and ultrasound.

Is there a test for carrier status?

An XX female who suspects she might carry the altered gene (e.g. because a relative has AIS) can be tested to see if she is a carrier, but the family member with AIS has to be tested first to find the mutation.

Further reading

About this resource

This resource was first published in ‘Genes, Genomes and Health’ in January 2010.

Topic:
Genetics and genomics
Issue:
Genes, Genomes and Health
Education levels:
16–19, Continuing professional development