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

89 replies

MumsnetGuestPosts · 11/06/2019 09:26

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.

OP posts:
SonicVersusGynaephobia · 13/06/2019 22:01

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

Can you explain this a bit more (I am not a biologist!)

Do you mean that a female (XX) can carry a gene that causes their male (XY) child to have AIS (either PAIS or CAIS)? Are there any symptoms of a female having that gene, or does it only manifest in males?

M3lon · 13/06/2019 22:06

kate its looks like this testing is around 100 quid a go. So that would be 20K per case identified approximately.

To me that sounds like good value for money in comparison with the difficulties faced later in life, and the possibility of picking up the genetics of the family before further children are born....and of course there must be other sex related issues that would be identified at the same time....

KateDaviesdsdfamilies · 13/06/2019 22:12

@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!)


Hi @howonearthdidwegethere, thats a really good question, a lot of which has been published in our latest report 'Listen to Us' (link in the OP). The main key issues that have been highlighted are:


• Clear, child or youth friendly information so they can understand their condition better.
• Emotional and psychological support as part of health care with psychologists working with every family - so clearly, more investment into psychological care
• To meet other young people for peer support, in different ways to suit different people - therefore, funding towards peer support days
• Their parents to be supported - more input into healthcare professionals trained in this specific support
• Public awareness so that their experience is known and understanding - what we are trying to do now!
• School PHSE/biology teachers to understand that differences of sex development exist - could this be put into the curriculum? (I see that this is a question for later!)

• Standard quality care around the country including regular medical and psychological appointments to help their child understand how they developed
• To know their child is safe in a school that can handle a medical emergency - this is the case in some scenarios
• Clear and detailed information at different ages - we are working on this!
• Meaningful conversations that start in childhood
• To meet others - 10 adults had not met someone with the same or similar health
condition

These are just some highlights from the report - most of it stems from the need for understanding, education and support - something we are working with on medical and healthcare professionals, support groups, medical societies and government (yes, literally - I have been to Westminster!)
FermatsTheorem · 13/06/2019 22:16

Thanks for the explanation about hypospadias, that makes a lot more sense to me now.

ByGrabtharsHammarWhatASaving · 13/06/2019 22:16

Hi, thanks for doing this webchat. As I'm sure you know we talk a lot over on the Feminism board about the sex and gender debate. It's no secret that this debate is highly toxic and that intersex people/ people with DSD have been caught in the cross fire. In your opinion, how can the people navigating this increasingly hostile discussion do so in a way that is more respectful and sensitive to people with DSD? I'm very aware that this is a fight which they neither started nor profit from and would like to do what I can to reduce the weaponizing of Intersex lives (and I'm sure most others on FWR feel the same).

KateDaviesdsdfamilies · 13/06/2019 22:25

Thanks for all of your comments today and this evening - it is heartwarming to see the interest that we are gaining. Please do follow us on Twitter @dsdamilies

For now, this has to close for the evening - DC to get up early for school (yes I am a MNer!), but I will carry on this tomorrow from midday and answer the questions I have not yet answered. Keep them coming, we are ready!

Kate

KateDaviesdsdfamilies · 14/06/2019 12:13

Hello.... I'm back to answer more questions....!

KateDaviesdsdfamilies · 14/06/2019 12:14

@DandyAndFine

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


There's a thought!
KateDaviesdsdfamilies · 14/06/2019 12:22

@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?


Hi @runningmonkey, that's fantastic that your students are discussing this! I can't say I know anything about Caster's specific diagnosis, but I think I can safely say that I don't think there are specific genes that code for extra Testosterone. She may have higher levels of testosterone due to a varying degree of androgen sensitivity / insensitivity. However, these increased levels of Testosterone are not harmful to her at all, and in fact is preferable to synthetic HRT which many women take. Many 'intersex' activists are adult women with AIS - Androgen Insensitivity Syndrome - whose gonads were removed at a younger age on the basis of some evidence regarding cancer risks, or even in some cases lying to the girls ("your ovaries are twisted and need removing" has been used). Many women these days would have preferred to have made their own minds up rather than take HRT.
FermatsTheorem · 14/06/2019 12:24

Can I just say a webchat on hypospadias would be brilliant. One of my cousins' sons had hypospadias (mild, opening on the underside of the glans) and in retrospect his parents say they have two main concerns with the way HCPs including the consultants handled the situation.

One was a gung ho "of course you will want this fixed" attitude, with no discussion of pros and cons.

The other was that all consultations were carried out with the child present so there was no opportunity to ask about things like, for eg, loss of sexual function following surgery.

It's only since the operation that they've become aware of a large school of thought which says"don't operate on children, let them decide as adults", and I also know they get badly rattled by news reports like that of the poor young man who committed suicide after a botched adult circumcision. They still worry if they did the right thing, and feel they were given a very one sided story by HCPs.

KateDaviesdsdfamilies · 14/06/2019 12:27

@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.


Thanks for this - lots to think about.
Practical Policies - more openness, discussing in schools, liaising with patient advocacy groups (like us). We advise families of newborns who are born with atypical genitalia, for example, how to tell their wider family and friends what has happened - our leaflet First Days gives excellent advice
KateDaviesdsdfamilies · 14/06/2019 12:35

@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.


I think that in some instances, medical needs have to trump gender identity needs - certainly in cases of infants with Congenital Adrenal Hyperplasia, we need to focus on adequate hydrocortisone and mineralocorticoid replacement otherwise they will become gravely ill, and this is lifelong. However, it must be stressed that the focus of the child and family are contained within a full multidisciplinary team, which includes a psychologist. Certainly, when I was working clinically with these families, the main focus was a) diagnosis and management and b) sex of rearing - and this was very dependant on the decisions of the team and the family, and does NOT necessarily depend on what their karyotype is.

With regards to Caster Semanya - I think she is a fantastic athlete and deserves the world's support, opposed to judging, regardless of the GRA. Caster, and other individuals with similar issues, should be supported by voices like ourselves - coming onto Mumsnet is just the tip of the iceberg we hope to crack - and should not be involved in active movements with other priorities.
KateDaviesdsdfamilies · 14/06/2019 12:51

@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?


I think the world of DSD has more of a biological basis rather than one of gender - but some people do use sex and gender interchangeably, which is incorrect - look at the 'gender reveal parties' or people asking 'what gender are you having?' Maybe it is because people are trying to be polite and not say the S word (ie sex!). I guess if society was less expectant of sex stereotypical behaviour, then we would have fewer problems, although as an adolescent you are continually questioning your identity and role in any environment, eg, being a son or being a best friend - throw in gender identity issues into the mix, sure - but this is a different kettle of fish for children and adolescents with a DSD, and makes it all a little bit more difficult for them - particularly adolescents who have a new diagnosis all of a sudden which can send their world into a spin. Clearly they need even more support and help them explore the sex role stereotypes and what fits for them
KateDaviesdsdfamilies · 14/06/2019 12:54

@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.


Hi @Llareggub, I can't comment on an individual case, but if your son has both testes still (did he have an orchidopexy - to bring down the testes?) then they should still be functioning. It may be worth a second opinion if you and he are worried
KateDaviesdsdfamilies · 14/06/2019 12:59

@LemonJello

Hi Kate,

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


I think there is probably a missed opportunity in schools in SRE and sex education classes - certainly my Year 5 daughter is having these talks now, and having watched some episodes of Call the Midwife, she does ask a lot of questions! I think that 'the norm' can certainly be dealt with, but what harm would it do to say 'well, most girls will have periods, but some won't' - or 'not all women will be able to have a baby' - then bringing other options like adoption, fostering, surrogacy etc? Instead of saying 'girls will....' how about 'most girls will....'

I must say, I do bring in DSD discussions when I teach endocrinology to first year student childrens nurses, and for most of them, it is the first they have heard of it - I think a little knowledge goes a long way..
KateDaviesdsdfamilies · 14/06/2019 13:04

@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?


Interestingly, we submitted evidence to the Scottish Parliament on this matter - you can have a Look here
KateDaviesdsdfamilies · 14/06/2019 13:10

@SonicVersusGynaephobia

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

Can you explain this a bit more (I am not a biologist!)

Do you mean that a female (XX) can carry a gene that causes their male (XY) child to have AIS (either PAIS or CAIS)? Are there any symptoms of a female having that gene, or does it only manifest in males?


One thing to remember here, is that women and girls with PAIS or CAIS are NOT 'male children', but females with 46,XY DSD. The genetic variation that causes AIS is found on the X chromosome (AR - Xq11 - Xq12 - so on the long arm of the X chromosome) of the Mum. If the baby is XX, then one X will compensate for the other - it is possible that an XX baby is a carrier of the genetic variation. If the baby is XY and genetic variation is passed on, then baby will have AIS and develop as a girl, with either CAIS or PAIS, or a boy with PAIS / MAIS, depending on the degree of sensitivity. And then of course, sometimes the genetic variation is not passed on at all.
KateDaviesdsdfamilies · 14/06/2019 13:14

@M3lon

kate its looks like this testing is around 100 quid a go. So that would be 20K per case identified approximately.

To me that sounds like good value for money in comparison with the difficulties faced later in life, and the possibility of picking up the genetics of the family before further children are born....and of course there must be other sex related issues that would be identified at the same time....


I don't think widespread testing is useful - certainly, all children who are referred to a DSD service do have their karyotype tested, and also children in where there is a family history also. It is difficult to predict if a girl will be diagnosed with CAIS in puberty if they look and behave like a 'stereotypical' girl all throughout childhood. This diagnosis and its issues are very manageable with the right team and the right support - medical and psychological. If you don't have that, then it becomes complex and difficult for people to understand. A DSD is a variation of one's natural development - and of course, all children will be loved and cared for, even if at first things are frightening, overwhelming and a lot for families to deal with.
KateDaviesdsdfamilies · 14/06/2019 13:20

@ByGrabtharsHammarWhatASaving

Hi, thanks for doing this webchat. As I'm sure you know we talk a lot over on the Feminism board about the sex and gender debate. It's no secret that this debate is highly toxic and that intersex people/ people with DSD have been caught in the cross fire. In your opinion, how can the people navigating this increasingly hostile discussion do so in a way that is more respectful and sensitive to people with DSD? I'm very aware that this is a fight which they neither started nor profit from and would like to do what I can to reduce the weaponizing of Intersex lives (and I'm sure most others on FWR feel the same).


Hi - I certainly have seen the discussions on the Feminism board! I have never been brave enough to comment, and certainly think once I did I wouldn't be able to stop, and would end up outing myself!

Basically - DSD needs to be left out of it all.

What can people do? Read our report Listen to Us and inform yourselves, and highlight this in the debates - what people affected by dsd are talking about, want and need. Granted, this is a small study, but we are taking baby steps and hope to make giant leaps soon.

Donate! We can therefore invest in public engagement and get this issue out there, and provide more support for children and their families!

Thank you for your concern - it is heartwarming Smile
KateDaviesdsdfamilies · 14/06/2019 13:22

@FermatsTheorem

Can I just say a webchat on hypospadias would be brilliant. One of my cousins' sons had hypospadias (mild, opening on the underside of the glans) and in retrospect his parents say they have two main concerns with the way HCPs including the consultants handled the situation.

One was a gung ho "of course you will want this fixed" attitude, with no discussion of pros and cons.

The other was that all consultations were carried out with the child present so there was no opportunity to ask about things like, for eg, loss of sexual function following surgery.

It's only since the operation that they've become aware of a large school of thought which says"don't operate on children, let them decide as adults", and I also know they get badly rattled by news reports like that of the poor young man who committed suicide after a botched adult circumcision. They still worry if they did the right thing, and feel they were given a very one sided story by HCPs.


Thats sad to hear - sometimes that extra support is needed by the full team, rather than just the surgeon. I hope they can find some support and guidance from someone - please advise them that they can contact our support group if they feel the need.
DandyAndFine · 14/06/2019 13:23

I hope you don’t mind but I have a few Qs!

This is obviously a sensitive topic so I hope I’m wording this appropriately, but do you have advice for parents on how to identify whether their young child’s genitalia may be atypically sized to the extent it’s a potential medical concern? Given that a parent of the other sex may have little idea of what is within the normal range for a pre-pubescent child, eg whether a 7 year old’s penis is very small.

Is size only a concern if functionality is too?

Following on from that, do you think that historically DSDs in girls may have been overlooked at birth/a young age because of the patriarchal focus on male sex organs and lack of academic interest and study re the clitoris?

KateDaviesdsdfamilies · 14/06/2019 13:23

I think I am up to date with everyone's comments... I think I'll give everyone some time to think of some more, and give the weekend-ers a chance to comment. I will return on Monday lunchtime. Have a good weekend everyone, and thank you for your thoughts!

Beamur · 14/06/2019 14:21

Thanks for coming on. I will read the report.
One question, if it's not too trivial. Does having extra nipples put a person in this category too?
I'm aware of a family member with this it has been a source of some emotional discomfort at times and people do react in strange ways to it.

CharlieParley · 14/06/2019 14:33

Hi Kate, great to read your posts and answers. I would also like to thank you for your excellent DSDfamilies submission to the Scottish Parliament. It was not only very informative but also written in a very accessible way and I really appreciated that.

I'd love to hear your thought on this:

As of 1 January 2019, Germany has a new law, specifically brought in to better support and protect people with DSDs.

It allows parents of babies born with DSDs as well as adults with DSDs to register their sex as "diverse" as long as they can provide either a medical diagnosis of a DSD or of past or ongoing medical treatment (so that patients don't need to get an additional medical report if they for instance had corrective surgery as babies but nothing else since).

This law specifically allows those who chose or have this "diverse" status, to freely choose a sex later on, to choose a different name to match with their chosen sex (changing names is much more difficult in Germany than in the UK) and to have this reflected on their birth certificate.

This is an obvious improvement over the previous law that allowed people with DSDs to leave any box asking for a person's sex blank, which brought a lot of other problems with administrative issues.

While the law has been broadly welcomed, it's been criticised on the one hand because it stopped short of also outlawing medically unnecessary medical treatment in underage children aiming to correct their appearance to more closely reflect male or female genitals.

(About 150 babies with ambiguous genitals are born in Germany every year, and for the last ten years, annually there have been about 2000 such purely cosmetic genital operations on children under the age of ten.)

But such a ban is being discussed for later this year.

On the other hand, trans rights organisations have demanded that they too should be allowed to use this third gender category, specifically calling for the requirement of evidence of a DSD to be scrapped as it is considered transphobic.

What is the situation in the UK?
Would such a third gender category, with its associated benefits of free name change, free legal sex change and permission to change again if this turns out to be wrong be beneficial?

The discussion around this has raised much public awareness in Germany specifically about the challenges that people with DSDs face. What is your opinion on now widening this new legal status by opening this up to people who do not have DSDs? If we had this here, would you find this helpful or counterproductive?

Oblomov19 · 14/06/2019 15:07

Once every 3 days?
Really? Is it that common?

I know the caster case is becoming more well known. There were 3 medal winners all with ongoing questions over their gender.

But every 3 days? Out of all the babies born? Surely it's not that common?

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