Guest post: ‘Differences in sex development’ (DSD) – what does it mean?

[MumsnetGuestPosts]

During your labour the midwife says, “Do you know what you’re having?” When the baby is born there is a quiet pause. “We’ll just call someone to come and take a look at baby,” they say.

Once every three days in the UK a midwife will spot that a baby’s sex development is different (referred to in healthcare as DSD). Sometimes DSD will be discovered later, for example during puberty when a teenage girl doesn’t start her periods - tests could show she has XY chromosomes and internal testes or XX chromosomes but hasn’t developed a womb.

Coverage surrounding Caster Semenya, and other debates about how to categorise sex and gender have generated a lot of confusing, inaccurate and sensationalised information around different sex development. All of this without thinking about the children and young people with different sex development and their families.

‘Different sex development’ is a term that is used to describe a range of conditions affecting the development of the genitals and reproductive organs. Factors like chromosomal variation, genetics, and sometimes infertility drugs can affect whether a person can produce or respond to sex hormones, which in term determines how the genitals and reproductive organs develop.

What do doctors mean by ‘atypical’ or ‘ambiguous’ genitalia?

For a girl this can mean that her clitoris is larger than usual, or her labia are fused together and bumpy. Sometimes a boy can have a penis with its opening at the base of the shaft, or the penis can be small and tethered to one side. Sometimes the scrotal sac can be shaped into two parts.

Spending your baby’s first week in a specialist children’s hospital learning about sex development can be extremely stressful. Sometimes a baby will need lifelong medication, for example if they have Congenital Adrenal Hyperplasia (46XX), which accounts for nearly a third of people with a DSD. Excellent guidance about those first few days can be found in our first days information pack.

Girls with a Y chromosome often don’t get a diagnosis until puberty. This can happen for girls with Complete Androgen Insensitivity Syndrome, which was featured recently in ‘Call the Midwife’ (BBC1, 2019). A young woman about to be married was concerned that she had not started her periods. Unknown to her, her body had transformed the testosterone produced by her testes into oestrogen, meaning she had an otherwise typical female puberty. The story centred on her diagnosis and the psychological impact it had. Thankfully, care surrounding the way the DSD is investigated and discussed has improved since the 1960s, but there is still some way to go. When a young woman discovers that she has a short vagina and no womb, she can need the support of a well-informed, loving family and help to understand her body.

Overall there are more than 40 different known biological pathways that affect sex development. Some people with different sex development reject the healthcare term DSD and prefer to use ‘intersex’. Most of the people that we meet are not interested in umbrella terms and prefer to learn about their own bodies - when talking to healthcare professionals they use their specific diagnosis or variation.

Dsdfamilies is a registered charity that provides information and support for children and parents. We have a website for parents and one for teens.

We have just published ‘Listen to Us’, a unique report following consultations with children, young people and adults living with DSD, and their families. It highlights the emotional and psychological needs of those living with DSD, as well as shortcomings in existing care. We’re calling for peer and social support, quality resources and thoughtful healthcare. Read the report.

This report was also raised recently on BBC World Service Health Check, where Patricia and Esme spoke about living with different sex development. Listen to the podcast (from 9m27s to 16m55s).

We are currently increasing our presence on social media, and are tweeting regularly with information on DSD conditions and factual support for parents and families @dsdfamilies

We support children, families and healthcare providers to raise happy, healthy, confident and well-informed young people who can speak up for the support they need.

Kate Davies will be returning to the post later this week to answer some user questions. Please note we cannot offer individualised medical advice on this thread.

[runningmonkey]

This is really interesting especially in the light of the Caster Semenya case which my a level students have been discussing a lot in class. thankyou

[MereMinion]

This is really helpful and gives a clear and informative overview of the issues, something that's been lost in the wider, tense, debates. It's useful to be reminded that there are real people, real issues and real impact on the thoughtless and often tense discussions on 'abstract' theories.

Thanks for posting, I'll have a look at the links.

[titchy]

Since when was hypospadia classified as a DSD?

[DandyAndFine]

@titchy not sure why you’re eye-rolling?

I didn’t know what hypospadia was but google tells me it was classed as a DSF in 2006 along with other penile ‘abnormalities’.
www.jpurol.com/article/S1477-5131(16)30012-2/pdf

[DandyAndFine]

Sorry that should be DSD not DSF, they’re penises not sofas

[belgina]

It’s such an interesting, but rarely discussed topic. Thanks for sharing all your knowledge :)

[M3lon]

Do you think chromosome testing should be done at birth? It seems very counter productive to leave discovery of CAIS until puberty.

[FermatsTheorem]

I'm also a bit puzzled by the inclusion of hypospadias (which is incredibly common - about 1 in 300 male births) because my understanding was that it was a birth defect more akin to a tongue tie, say, than to a DSD.

[Yeahnahyeah]

Do you agree that only a tiny, tiny number of DSD's entail falling under the LGBTIQ umbrella, and are you aware of the concerns of many people with a DSD that the 'i' is even under the umbrella at all?

[TriciaF]

No intersex person belongs under the LGBTQ+++ umbrella. DSDs are a biological condition not a sexual preference.

[TriciaF]

This is under the very broad approach which includes all anomalies.
pediatrics.aappublications.org/content/118/2/e488

[KateDaviesdsdfamilies]

Hello everyone, I'm here to answer your questions...

[KateDaviesdsdfamilies]

@runningmonkey

This is really interesting especially in the light of the Caster Semenya case which my a level students have been discussing a lot in class. thankyou

Thanks @runningmonkey, I think the Caster Semenya case has raised a lot of discussion recently. What is interesting is that no-one actually knows what her 'diagnosis' is - and quite rightly so - so there is a lot of guessing and judging without really knowing the facts. Can you share the thoughts from your A level students? Are they studying Biology?

[KateDaviesdsdfamilies]

@MereMinion

This is really helpful and gives a clear and informative overview of the issues, something that's been lost in the wider, tense, debates. It's useful to be reminded that there are real people, real issues and real impact on the thoughtless and often tense discussions on 'abstract' theories.

Thanks for posting, I'll have a look at the links.

Thank you, I agree that these pertinent issues are being lost in the tense debates around today. Our links and resources are grounded in support for children and their families, and raising awareness

[KateDaviesdsdfamilies]

@belgina

It’s such an interesting, but rarely discussed topic. Thanks for sharing all your knowledge :)

You're right @belgina, it is rarely discussed, and there is sometimes a 'stigma' attached to it. It is our aim to raise awareness on how dsd can affect so many families - do listen to our podcast which we detailed in the OP

[KateDaviesdsdfamilies]

Good questions surrounding hypospadias too - it is indeed very common, and it is something that should be talked about more - perhaps another Mumsnet discussion?

It does indeed affect a highly sensitive and intimate part of the body. It means that the urethral opening (the 'wee hole') isn't at the tip of the penis, but somewhere underneath the shaft. There are varying degrees , depending on where the opening actually is. DSD services usually only review boys who have PSH - Peno Scrotal Hypospadias, where the urethral opening is right at the base of the shaft of the penis down near the scrotum. This can sometimes be associated with an undescended testicle as well.

PSH usually affects around 70 boys per year - about half of these will have fully developed testes, and the other half have underdeveloped testes. It is noticed at birth, and the baby and family need full support in the next steps, and a full multidisciplinary team, like a DSD service, which includes Urologists, Endocrinologists, Pyschologists, Family Advocates and Nurse Specialists (to name but a few), are vital in providing this support.

[KateDaviesdsdfamilies]

@M3lon

Do you think chromosome testing should be done at birth? It seems very counter productive to leave discovery of CAIS until puberty.

Good question - I'm not sure about the NHS costs on karyotyping every infant that is born - but rather than testing everyone for what are rare conditions, perhaps we need specific targeted investment the expert care and support for young people who face this in puberty. This can include communication training for healthcare professionals, supporting teenage girls suddenly faced with infertility, and helping them with the ability to discuss their AIS with friends and partners.

In AIS, there is often a hereditary link - a female carrier is likely to have an affected child - 25% chance for each pregnancy. Therefore, genetic counselling is key, and family support will help with psychosocial interventions

[runningmonkey]

Yes they’re A level biologists. The discussions have come up when studying genetics and chromosomes and they have obviously seen reports in the news. They had some lively debate about whether Caster should be able to compete with women (which they agreed that she should) but then wondered if her genetics (they are presuming she has genes which code for extra testosterone) gave a competitive advantage and how other athletes feel about it. The one question was if she has elevated testosterone levels would it have any negative health implications for her?

[KateDaviesdsdfamilies]

@Yeahnahyeah

Do you agree that only a tiny, tiny number of DSD's entail falling under the LGBTIQ umbrella, and are you aware of the concerns of many people with a DSD that the 'i' is even under the umbrella at all?

Good point, we are very aware that the 'I' is under the LGBT+ umbrella - some people think that it should be, some people think that it shouldn't. Our job at dsdfamilies is to support the child / young person and their family in their approach to living with their dsd

[howonearthdidwegethere]

Hello.

What would you say are the top priorities that those with DSDs and/or families/parents of those with DSDs would most like to see from government?

(Thank you for doing this chat btw!)

[Alicethroughtheblackmirror]

Thank your for this!

What sort of practical policies and help would you like to see offered to families and children to learn and talk about this?

Do you see the main need as concerning medical rather than identity issues?

Also, do you feel that the case of Semenya has become extremely difficult to judge dispassionately in light of fight over GRA?
It seems, to me, to highlight need for independent voices like yourselves to lobby for these medical conditions to be assessed on their own unique merits rather than subsumed in other groups who may have other priorities.

[picklemepopcorn]

If our world was less gendered, do you think the adolescence of children with DSDs would be easier? Less of a shock if there is less differentiation between male and female children?

[Llareggub]

Hi Kate, thanks for doing this guest topic. It has been very interesting. You mention the penis being very small and tethered to one side; when my son has an operation to move his testes (I noticed they had disappeared when he was around 3) I asked the consultant about his v small penis. He is 10 now and it is still v small. Obviously I have no idea what is normal and whether I should get him checked out. The consultant didnt seem concerned but I thought as you were here I would ask.

[LemonJello]

Hi Kate,

What kind of education do you think should take place in schools about DSD, if anything?

[Mxyzptlk]

Some people have been claiming that the existence of people with DSD means that sex is a spectrum. What is your view of this, and of the campaign to have a 3rd option of intersex/non-binary on census forms?