Q. We are the parents of a new born baby/ toddler/ young teen and doctors have suggested we should look at this website? We don't know where to start?

A. We have a section on this website that has been specifically written for new parents.

Q. My child was diagnosed soon after birth and is now turning 7. I want to talk to him more about how his body has developed. What should I say?

A. Take a look at our Top Tips for Talking, pick out a place to start and have a go. It may take you a few times to find the right words but keep going back to the tips if you can’t get the words out at first. Don’t give up, it will get easier.

You can also look at the ‘Story of Sex Development’. Take a pencil and paper and try to map your child’s development on to our sex development template – you can ask your healthcare team to help you. Once you are comfortable drawing it and explaining the drawing as you go along, it will be easier to talk to him in simple and friendly terms. Also, there is a section on our website called ‘Timeline for Talking’ – there is some practical advice there that you might find useful too.

Q. I've never heard of DSD. What does it stand for?

DSD stands for ‘Differences of Sex Development’. Doctors sometimes use the word ‘disorders’ for the first ‘D’ – disorder just means ‘complaint’. It includes a broad range of conditions that affect the way the reproductive system develops, beginning with the embryo in the mother’s womb through to infancy and young adulthood.

DSD leads to variations in the development of the gonads* (ovaries/testes) and of the genitalia. This can sometimes make it difficult to know at the birth of a baby whether the baby should best be raised as a boy or as a girl. In older children it may have other effects for example working out whether a girl will have periods or not.

Most families and children will rarely come across the name ‘DSD’ but instead will only use the specific name of their child’s condition or diagnosis, for example, AIS, CAH, Gonadal Dysgenesis, severe or penoscrotal Hypospadias, etc. This can make it very confusing for parents to know where to find support for their child. On this website we try to point you in the right direction as clearly as possible and use specific names when we can.

*Note: gonads is a general name for testes and ovaries. In DSD these can sometimes be streak (underdeveloped) gonads or, occasionally, ovotestes (a mixture of ovarian and testicular tissue).

Q. I have heard the term intersex. What does it mean?

Intersex is a term that was previously used by doctors before DSD. For them it has the same meaning and doctors now see it as an out-dated term. For some support groups it is the term they choose for the way their bodies have developed. Some groups and some writers and academics use the term Intersex Traits. Social scientists tell us that when a term is used by a group to describe themselves it can become an identity that others can use and feel collectively supported by.

The information on this website is written for parents and children who are learning about their bodies and needs to build on what doctors have told them. This is why we start with DSD (Differences of sex development) and the specific words used as a diagnosis. A child may choose to use the term ‘Intersex’ in the future. It is one of the terms that you can let them know about. See also Timeline for Talking.

Q. What is 'sex development?'

Sex development is the complex process of how the parts of the body that, for some, enable them to have sex and sometimes reproduce, are formed. The sex of a person is not determined by one part of their body. There are different parts to look at in order to work out how the body will develop through life. This is what doctors do when they run tests during the first weeks of a baby’s life. They include how the genitals look on the outside, how the baby’s reproductive organs developed on the inside, hormones and how the baby’s body responds to them, as well as genetic information.

Take a look at the ‘Story of Sex development’ and learn more about YOUR sex development? Can you map it on our template?

Q. Are DSD and transgender the same thing?

No, they aren’t.

DSD refers to a physical situation that begins before birth in which the reproductive/genital system does not develop as expected for a typical boy or girl.

Transgender describes the situation when someone identifies themselves as (feels that they are) a gender not suggested by their bodily sex.

Very rarely, children or young adults with a DSD may feel that they are not the sex they have been told they are. This doesn’t happen very often, but for some diagnoses, children can start out with very similar bodies and can grow up either as girls or as boys. Doctors are careful to try and work out what will be the sex that the person will feel right as.Sometimes, however, a person will grow up and be able to explain that they feel that a different gender would suit them best. This can be for people without a dsd and can also be more likely for some people with certain types of dsd. If this happens, it does not mean that someone made a medical mistake, just that things turned out differently from the initial observations and decisions. With love and support, families can successfully work through this experience. There are currently no meaningful studies on this but experts tell us, that of the estimated 130 babies that are born in the UK each year with genitals that look different, 1/130 or 1/260 (one per year/ one every two years) might experience the feeling that they have been given the wrong gender.

Another term you may come across is ‘Transsexual’. It is an old term that is sometimes used to describe someone who has taken steps to have their genitalia altered to be a different sex, not because they have a dsd.

Q. Why do some LGBT groups add an I for Intersex?

LGBT Lesbian, Gay, Bisexual and Trans groups have had great success supporting each other and protecting each other from inequality and discrimination. An aspect of the LGBT movement has been to help develop a strong collective identity as a group and despite experiencing persecution because of their natural development and how they identify, the group can be supportive and politically influential. Some LGBT groups have seen that just as they are defined with reference to sex and gender, so are people with DSD. By adding an ‘I’ they have invited people who identify as Intersex to join their powerful collective and receive their support.

Some Intersex advocacy or activist groups welcome this and see being part of this movement as helpful in combatting possible discrimination on the grounds of their 'Intersex traits'. Other intersex advocates welcome the LGBT movement but reject the direct overlay of an LGBT set of priorities that could divert funding from Intersex groups’ aims. Some condition specific support groups feel that the adding of ‘I’ to LGBT complicates rather than promotes understanding.

As a website for parents we are meeting people whom are mostly new to their child’s condition and who have usually not developed a sense of themselves in relation to Intersex.This means that to focus on Intersex might bypass the people we want to reach at this early stage. We are talking about other important things that may be different to the priorities that LGBTI groups identify as of main concern.

Government bodies and funding bodies must take this into careful consideration.It is vital that future investment for children and young people with a difference of sex development is focused on the rights of and support for these individuals and their families.

Q. Is DSD a single medical condition or more than one?

DSD is an umbrella term used to describe around 40 different physical conditions affecting the reproductive and genito-urinary development of a baby in the womb.

Have a look at the ‘Brief Overview of DSD’ and ‘The Story of Sex Development’ elsewhere on the website to understand how and why there are so many variations.

Q. What is the cause of DSD?

The reproductive system develops in the foetus from a common source (this means that usually babies have the same ‘kit’ and could develop as a typical boy or as a typical girl).

Influenced by the sex characteristics, i.e. the mixture of genetic factors (sex chromosomes), biochemical processes and hormones, a baby usually follows a typical male or typical female path from about eight weeks into the gestation period (in the womb).

In DSD, babies follow a less typical path to becoming boys and girls. The development of the reproductive system (internally, and genitals externally) can take an alternative path at various stages (relating to production of hormones and/or how the body responds to them).

Some differences of sex development are caused by a genetic change; in fact, more than 30 single gene causes are currently recognised. However, for many children born with a DSD, the underlying cause is still unknown.

Q. What are the physical signs of DSD?

This varies greatly.

Occasionally a baby with a difference of sex development may be born with genitals that look different from what is expected. A girl might have a larger-than-expected clitoris, whereas a boy’s penis might be smaller than average. And in some babies, there is nothing unusual in their external genital appearance, but are later found to have unusual internal reproductive organs.

In many girls with the complete form of AIS (CAIS), there is nothing unusual in their outward physical appearance until they don’t menstruate at puberty and are found to have internal testes in place of ovaries and a uterus. In some of the diagnoses that come under the DSD umbrella, a girl’s vagina may be shorter than average.

Babies with congenital adrenal hyperplasia (CAH) have serious metabolic problems needing life-long medical treatment. But in other DSD, there are no life-threatening issues.

Q. When are children typically diagnosed as having a DSD?

This might happen at birth when, because of genitalia that look unusual, i.e. if it is not immediately obvious whether the baby is a boy or girl. If further tests find that the baby has a DSD, the family will be looked after by a ‘multi-disciplinary’ team of health professionals.These include paediatric endocrinologists, psychologists, specialist nurses, paediatric urologists, geneticists and are all experienced in these conditions.They will help them get the best care for their baby.

You can read more about the ‘Multi-disciplinary teams’ elsewhere on this site.

The other main time that DSD presents itself is in adolescence/puberty. In some situations, a young person may not show signs of puberty at all (for example, in a condition known as gonadal dysgenesis), or girls might go through puberty but not have any periods (such as in androgen insensitivity).

DSD is not a technically a diagnosis in the traditional sense of the word, for it is not a single condition. Rather, it is a collective term that helps doctors group together a set of rare diagnoses that share some common features.

Q. How common is DSD?

DSD affects around one in every 4,500 births, in other words, around 130 babies in the UK every year. But since DSD is a collection of different conditions, some variations are more common than others.

Hypospadias, in which urine does not come out of the tip of the penis but somewhere along the shaft, can affect up to one in every 300 baby boys. Nowadays, there is no confusion understanding the child’s sex of rearing.Only Penoscrotal Hypospadias (when the urine opening is right at the bottom of the penis shaft) would be considered a difference in sex development.

There are some children whose DSD will only be noticed when their puberty happens in an unusual way, although numbers for this are less well documented.

Q. How does DSD affect the day-to-day lives of children and young people with the condition?

How children will be affected largely depends on the condition a child has.

A child with CAH will need life-long medication, at first three to four times a day. But just like other children who need to take daily medication, families are able to work around that and ensure their kids play, go to school and reach their full potential.

Some children won’t need any medical monitoring until they go through puberty. In some circumstances they will need medicines to make puberty.

Children whose families decided on early genital surgery will be seen again in late childhood as puberty changes begin to occur. Many will be offered more help in relation to that surgery as they grow up.

Children with dsd will learn about how their bodies develop and what that means for them.It is important that families are supported by helping them explain all this to the children in a friendly and understandable way (see e.g. this blogpost by Ellie about how a girl with a Y chromosome manages biology lessons).

Q. How does DSD affect other family members?

In the past, it was common for doctors to advise parents to withhold the diagnosis from their child (and not tell them about any surgery that was performed on them).This could result in the child growing up aware of an unspoken secret and not knowing what it was. Without understanding the true facts about their bodies, they could grow up unable to understand and unaware of the information and support available to them.

Since the late 1990s, with the emergence of patient support/advocacy groups such as AISSG (Androgen Insensitivity Syndrome Support Group), doctors have been encouraged to be more open and truthful. Such groups have also campaigned for professional psychological support from diagnosis onwards, helping parents raise their child in a loving, truthful and supportive way.

These days families will always be told the full information about their child’s development. This, however, doesn’t mean that families always understand the diagnosis or that they are receiving adequate support to share the information with their child. Sometimes the information given to parents is given too quickly or at a time when they are upset and can’t take it in.It is therefore important that families know they will be supported and the information will be explained to them as many times as needed.

Many families want to be very careful about their child’s privacy and thus they continue to live in isolation.They may rarely talk within their own social circle about their child’s condition. This is not good for the parents because their worries are kept to themselves and they have don’t have an opportunity to discuss and help lessen them.Nor is it good for the child because parents don’t get the chance to reflect and learn from others about what might help.

It is important for medical teams to get across to families that they are not alone.They can facilitate peer-to-peer support by hosting family days and/or by providing information to family groups.They can also help families by showing them how best to start talking about these conditions within their own social circle.

Q. Can adults with DSD enjoy intimate sexual relationships?

Yes!

It is good when young adults feel able to talk about their condition with other young people, parents and professional counsellors/psychologists. This will help them to appreciate that there is a wide variety of things to do in a sexual relationship. They can understand too, that genitals can look different in many ways - even within what is considered ‘typical’. They can learn how they might want to share information when discussing their condition with a friend or intimate partner. They could find out what to expect of their bodies during masturbation or sex with another person. Many people, with or without a DSD, can be down-heartened if they see pornography and judge their bodies or their sex-lives against the fake images, unreal situations and unusual bodies shown there.

Q. Are there any medical treatments for DSD?

Children and adults with certain forms of CAH will need regular medicines to make their body work and keep them healthy.

If a person’s gonads (the tissue that can become testes or ovaries) don’t develop fully then doctors will discuss this and talk about surgically removing them. In some DSD diagnoses, there is a risk of cancer developing in testes that have not formed properly, but the risk varies from very low in some conditions (e.g. AIS) to high in others. If a person’s gonads are removed they will need to take the hormones that would have been produced by the gonads had they worked well.

In general, the best way to manage having a DSD is by understanding the different pathways to becoming a girl or a boy that bodies can take.Parents should be equipped to explain conditions to their children in a simple and friendly way.Young people can be helped to have a good understanding of their condition.It is important they are helped to have a positive body-image and self-esteem and support to enable them share information about these conditions on their terms.Medical teams will help the young person deal with all of this, but much of it will be left for the parents to do, as it naturally happens at home and part of everyday life.

Q. Is any medical research being conducted into DSD?

There is a lot of research on biomedical aspects, but what is really needed is psycho-social research and translation of research outcomes into practical tools that help children, young people and families understand DSD and how to talk about it. Researchers in universities and hospitals carry out research that could help health services improve but fitting these changes in to health team practice needs research too.

Q. We are a media organisation and have been contacted by an individual with ‘intersex’ who'd like to raise awareness. Can you advise us?

We believe the media has a really important role to play when it comes to helping society understand DSD, and in principle we are always happy to help and to partner with you in producing a good article. We strongly recommend that you involve a medical professional in any work you do.

However, all too often, these issues are approached in a sensationalist way and rather than promoting an understanding, media articles have often ended up hurting and upsetting those who live with these conditions and those who care for them. This makes it more difficult to find families who are prepared to talk about their experiences.

Sometimes articles use inaccurate, medically incorrect, or outdated language. We know, better than most, how difficult it is to express information about this complex matter – but we insist in helping you to get it right.We will therefore always seek copy-approval prior to agreeing to formally take part.

If you wish to contact us to explore a story or a documentary centred around an individual, we would need to know what condition the individual has (Intersex or DSD won’t do). This is so we can understand the perspective that individual wishes to bring to the table. We would also wish to know whether that individual is receiving medical (endocrine) and psychological support from an expert team in the UK.

Q. I am a journalist covering Athletics. Is coverage of athletes with Hyperandrogenism related to differences of sex development?

Hyperandrogenism means that a woman has naturally high amounts of androgens in her bloodstream. It is similar to the swimmer Phelps having very large feet and wide arms, and also similar to Bolt having strong and long legs. All athletes would have to work very hard to make their natural advantage a winning advantage.

We would ask journalists covering athletics – or indeed anyone who has an opinion on this matter - to remember that there are lots of children, young people and adults with hyperandrogenism in the UK.

A positive and science-based piece can really help changing outdated perceptions (see e.g. coverage by Sean Ingle @seaningle and by Andy Bull for the Guardian)

For further information about this we refer to Katrina Karkazis @Karkazis and Silvia Camporesi @silviacamporesi.

Q. I am a primary school teacher and would like to know more about dsd, can you help?

We are currently developing ideas around how to support schools in caring for those pupils who share information about having a dsd. Please do get in touch with us on info@dsdfamilies.org as we would welcome involving you in this.

In the meantime have a look at our ‘School’ pages‘School’ pages for some suggestions on supporting young kids in school.


Q. I am a headteacher of a secondary school and wonder if we need to teach about any of this 'DSD' or about 'intersex,' can you help?

We are currently developing ideas aroundhow to support schools interested in this, please do get in touch with us on info@dsdfamilies.org as we would welcome involving you inthis.