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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:
MeetTheNewAccountSameAsTheOld · 14/06/2019 16:03

In the Government's National LGBT Survey, about half of the respondents who were intersex/VSC responded that they were trans, having a gender identity which did not match that assigned to them at birth- (para 150, Reform of the Gender Recognition Act: Government Consultation)

Are you surprised by that number, or is it broadly in line with your experiences?

HareTodayGoonTomorrow · 14/06/2019 17:20

@Oblomov19 I took that figure to mean that out of all the midwives and doctors (as a whole group), once every 3 days one of them would come across this - so about 120 a year altogether, out of the many thousands of births. I could be wrong but it seems more likely.

Oblomov19 · 14/06/2019 17:45

Ok hare.
There are approx 700,000 babies born each year in the UK.

bluebluezoo · 14/06/2019 21:14

Wrt caster semenya- many posters on state it is unfair for her to compete as she has “been through male puberty”, which therefore confers an advantage.

Is this possible? I know we don’t know her diagnosis but do dsd children have a normal puberty that aligns with their karyotype, or phenotype?

Wrt genetic testing at birth- would it confer any medical advantage to diagnose dsd’s such as or xo or xxy at birth? Are there interventions that would make a difference?

ByGrabtharsHammarWhatASaving · 14/06/2019 22:39

Thanks for replying KateDaviesdsdfamilies I'll read the report and do my best to challenge misinformation.

This isn't really a question but, if you haven't already seen it, the NHS resource on gender dysphoria seems quite muddled and talks a lot about intersex conditions in it's "what causes gender dysphoria" section. From what you've said it sounds like this page contains quite a lot of misinformation or, at best, needless conflation. Might be worth giving it a glance to see if you think the content is OK.

Bornafreak · 15/06/2019 12:21

I hope you don’t mind me writing but I wanted to offer my insight as I was born with ambiguous genitalia and had to undergo chromosome testing which as far as I’m aware of never led to a diagnosis of dsd. But I always felt so ashamed and embarrrased about my medical conditions and even now I don’t like telling people but I had to undergo cosmetic surgery to enable me to have normal periods and later on a sex life but I still need to dilate. I think on one hand it’s good that more people are talking about disorders of sexual development but I don’t like the argument being made for choosing gender and intersex should not come under the LGBTQ’s umbrella but that is just personally my opinion. I also hope doctors can be sympathetic as when I got told I was a young teen who got told “have you noticed you aren’t normal down there” and I hope the training has came on since then.

MrsPnut · 15/06/2019 20:59

You definitely weren’t bornafreak, and I do hope that the medical profession has moved on with their bedside manner.

No child knows whether their genitals are normal, the images in the media are so unrealistic.

bluebluezoo · 15/06/2019 21:40

as I was born with ambiguous genitalia and had to undergo chromosome testing which as far as I’m aware of never led to a diagnosis of dsd

So if you don’t mind me asking, did you ever get a diagnosis? Have you tried to find out or are you happier not knowing?

Do your chromosomes “match” your gender? Were you/your parents advised surgery at birth or to wait until you could decide?

Feel free to ignore my curiosity :).

I too think intersex people are being thrown under the bus in the trans battle.

Lumene · 15/06/2019 22:00

Thanks for posting your perspective born , it sounds as though you have had a tough time.

Bornafreak · 15/06/2019 22:43

Thank you mrspnut and lumene
blue No, I never did get a diagnosis although as an adult I underwent chromosome testing and the geneticist never found anything and I declined to have further testing done as to me it doesn’t really matter anymore and as for whereas my chromosomes match my gender I would have to say no, my chromosomes match my sex as I don’t feel like I have an innate sense of gender. I just feel like me. My parents haven’t told me much but just that they thought the problem had been sorted at birth but cannot tell me if I had cosmetic surgery specifically to help appearances as I was also born with a lot of congenital problems but it was a battle as an adult to get referred for plastc gynaecology surgery.

ixqik · 16/06/2019 03:56

As Caster Semenya seems to be 46XY PAIS and is referred to as ‘female with hyperandrogenism’ rather than ‘male with hypoandrogenism’.

Is this nomenclature a reflection of what would be used in a DSD clinic?

calpop · 16/06/2019 09:51

I don't think she is referred to like that. That was when the press thought she was a female with "unusually high testosterone levels" rather than a male with a DSD.

Micah · 16/06/2019 13:18

Threads i have read here seem keen to categorise Caster Semenya as male, saying as mentioned above xy chromosomes and “male puberty” give her an unfair advantage. I’ve even seen some people insist on using male pronouns.

Do you agree?

In the case of intersex, do you define their biological sex by their xy/xx status, by their genitalia, by testosterone level?

Is enough known about dsd to be able to say that person is male or vv? Or is it a more complicated spectrum?

ByGrabtharsHammarWhatASaving · 16/06/2019 15:11

On the Caster Semnya case, the IAAF released an FAQ about the regulations:

Which athletes fall under the DSD regulations?

The DSD regulations only apply to individuals who are:

- legally female (or intersex) and who have one of a certain number of specified DSDs, which mean that they have:
- male chromosomes (XY) not female chromosomes (XX)
- testes not ovaries
- circulating testosterone in the male range (7.7 to 29.4 nmol/L) not the (much lower) female range (0.06 to 1.68 nmol/L); and
- the ability to make use of that testosterone circulating within their bodies (i.e., they are ‘androgen-sensitive’).

That's where the discussion in FWR is coming from

KateDaviesdsdfamilies · 17/06/2019 11:55

Hello - thanks for all the interest - I'll try and cover some of the comments here...

KateDaviesdsdfamilies · 17/06/2019 12:03

@DandyAndFine Sorry I didn't answer you Friday evening...

I think it is usually if an infant's genitalia is atypical - we are talking about instances such as fused labia, or the clitoris being so large it could look like a small penis. But size can be a concern, not just functionality - little girls may be conscious wearing swimming costumes, for example. Sometimes surgery is needed, and sometimes it isn't - for example, does a little girl need a vaginoplasty when she doesn't really need to have a vagina until she is in puberty? Sometimes it is best left for the child themselves to make their decisions about their own bodies..

I don't think DSDs in girls may have been overlooked because of male hierarchy, I think it is possibly due to education (or lack of) - certainly in less privileged / first world countries in comparison to the UK, there sometimes just isn't the resources or knowledge to support these girls and their families, and they are brought up as boys because they 'just look' like them.... or in the case of CAH, a salt losing crisis would be sadly fatal.

KateDaviesdsdfamilies · 17/06/2019 12:04

@Beamur Unfortunately I can't say, in my experience, that a supernumerary nipple in itself has been referred to a DSD service.

KateDaviesdsdfamilies · 17/06/2019 12:05

also - @DandyAndFine - there also sometimes is not the physical resources to investigate and diagnose the girls either

KateDaviesdsdfamilies · 17/06/2019 12:08

With reference to Caster - she did not undergo a male puberty - she is a she, and we, as the general public, do not know her diagnosis - so every organ she has will be responding to the levels of hormones that she herself is making, due to her genetic variation. So - as is evident - whilst her body is producing and converting testosterone TO A DEGREE (and we all make testosterone and androgens) - she is a female.

KateDaviesdsdfamilies · 17/06/2019 12:11

On the subject of puberty, it will depend on what the DSD condition is as to how the child goes through puberty. A girl with 21 Hydroxylase deficiency CAH may go through a normal puberty, she may not - her growth spurt, for example, will depend on whether she is compliant on taking her hydrocortisone medication. A girl with CAIS will develop some pubic hair and under the arm hair and breasts, and have a vagina.... but she won't know something is different until she does not have periods like her friends do. Each child is individual, and we are here to help them through this - we have our own separate teen site as well dsdteens

KateDaviesdsdfamilies · 17/06/2019 12:16

The German laws from 2013 and 2019, as well as the laws in Malta, are good examples of what happens when very well-intentioned but poorly informed and supported policymakers make bad laws, which tend to be removed from the real world, the real needs and the realities of children and people living with a dsd. We - as a support network - strongly urge these policymakers to find out more about the support that those with a dsd need - get in touch with us, Living with CAH, the Hypospadias forum, the AIS group, and other established 'intersex'-only organisations.

KateDaviesdsdfamilies · 17/06/2019 12:22

@Bornafreak I am so sorry about your experiences. I hope that things have moved on and that times have changed, certainly with the children and families I have worked with I hope I have shown nothing but compassion and empathy - which is what has led me to being involved in this support group. I do hope you are under the correct services now, and if you would like further support, please do get in touch with us directly.

Many of our teenage girls - and women - have to dilate, and we do give a booklet out to help on the journey - not sure if you have seen it but it is available here

Please do get in touch with us if we can help in any way.

KateDaviesdsdfamilies · 17/06/2019 12:23

Thanks for the heads up re the NHS information - we are already aware about this, and are working with NHSChoice and NHSEngland in providing more educated and useful information.

KateDaviesdsdfamilies · 17/06/2019 12:26

It's interesting how political discussions can get...!

terfinginthevoid · 17/06/2019 16:48

With reference to Caster - she did not undergo a male puberty - she is a she, and we, as the general public, do not know her diagnosis - so every organ she has will be responding to the levels of hormones that she herself is making, due to her genetic variation. So - as is evident - whilst her body is producing and converting testosterone TO A DEGREE (and we all make testosterone and androgens) - she is a female.

We know that Semenya has male chromosomes and functioning male gonads (otherwise the IAAF regulations would not apply). She is clearly legally female, but just as clearly she is not biologically female. Had she not had a disorder of sex development, she would have developed a functioning male reproductive system. The disorder has meant that her external genitalia have not developed properly, and presumable have a female appearance. She is a biological male with a disorder of sex development.

To call her a 'female with a genetic variation' is inaccurate. Females produce testosterone too, but not at anywhere like the levels produced by male testes. She experienced male puberty because her male gonads produced male levels of testosterone which produced a male phenotype with abnormally developed genitalia.

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