Disorders of sex development (DSD) 

Disorders of sex development (DSD) are conditions that cause people to be born with a mix of male and female genital features. A urologist explains about the different DSD syndromes, how they affect children, and the treatment options available. Lexy, who was diagnosed with partial androgen insensitivity syndrome, explains why she started hormone therapy at the age of 34.

Find out about androgen insensitivity syndrome (AIS)

Transcript of Disorders of sex development (DSD)

When parents or obstetricians or midwives

identify a child now as having ambiguous genitalia

or appearing to have a problem, then there is a far clearer pathway.

Of course, information is far more accessible now.

When I was born, there was something there that appeared to be a phallus.

So I guess they felt, "It's a boy."

Very simply, does something look like it's male external genitalia

or does somebody look like they've got female external genitalia?

Or are they what are called ambiguous where you've got a mix of features?

(Lexy) When I was eight or nine years old,

I started to develop breasts

and I went through quite a long time where I just couldn't relate to boys.

There was something different about me.

I didn't feel like a boy. I felt that I had a lot more in common with the girls.

Sexual differentiation covers a group of diagnoses or syndromes

that really affect the way that an individual grows and develops

from the point of view of both their sexual function

and their cosmetic appearance.

They're classified according to three main criteria.

That's their genetic make-up,

their phenotypic make-up, so what they look like,

and also their hormonal make-up.

Any one of those three factors can influence the way somebody develops

from the point of view of their outward and inward sex.

(Lexy) I did try and live as a guy

until I was 33, 34, because I hated feeling isolated.

(Dan) Androgens are a group of hormones

which includes particularly testosterone, the most well-known one,

but there are other androgens too.

They're important in terms of the way that we function

from a male or female point of view.

They act on our brain, our genitals and our testes.

It alters the way we produce sperm. It alters our function.

It's known partial androgen insensitivity syndrome.

It's also known as PAIS.

It's apparently where the body doesn't respond

to the testosterone or the androgens.

In these syndromes that we're talking about,

they are XY children.

They have the genetic make-up to make them a boy

but they lack the ability to respond to that testosterone drive

either partially or completely.

That means they are not able to develop the normal male features

that we would expect them to have.

That can be both in terms of sexual appearance,

but also behaviourally to some extent.

In the end, it was 2007, I said, "I can't go any further

under this pretence." I had to do something about it.

(Dan) Hormone therapy for these patients

will vary enormously.

If they're going up a female sex of rearing route,

they will need the female hormones to help them balance that.

If they're being taken down a male route,

clearly trying to preserve the testes,

but considering hormone supplementation, depending on their levels,

may also be important.

Those are important aspects as far as the hormonal side of it is concerned.

It would be quite wrong to give the message that surgery is bad

in these patients

because there are some times

when it's very important that surgery is used,

but it has to be used appropriately.

I'd say, most of all, not to fear this

because it's not some kind of wilful subversion.

It's a genuine feeling that the child has.

(Dan) There's also a wide variance of normal.

It's very important that people don't jump to conclusions

and don't start being alarmist about things.

The most sensible thing for a parent or a doctor

who is confused by what they see

is simply to ask for advice.

We have a multidisciplinary team that can help them

with either being comfortable with the decisions they make

or if there are changes that need to be made, helping them make them.

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