Intersex variations, differences of sex development and variations of sex characteristics

People with intersex variations are born with sex characteristics that don’t fit medical and social norms for female and male bodies.

These variations might affect people’s external sex organs. For example, their genitals might look different from what’s typically expected for male and female bodies. Or people might have differences that you can’t see. These include variations in internal sex organs, sex chromosomes, genes or hormones.

Some intersex variations are obvious at birth, some are identified around puberty, and some emerge in adulthood.

Intersex variations include conditions like congenital adrenal hyperplasia (CAH) and androgen insensitivity syndrome (AIS).

People with intersex variations use various terms to talk about themselves, including ‘intersex variations’, ‘differences of (or in) sex development’ and ‘variations of sex characteristics’. Some people prefer to use the name of the condition they’ve been diagnosed with. If your child has an intersex variation, you and your child can decide on the language you prefer. And you can ask your child’s health care team to use this language too.

Identifying intersex variations

Pregnancy
Sometimes intersex variations are identified during pregnancy. For example, a standard antenatal ultrasound scan might show differences in your baby’s external genitals. Or a non-invasive prenatal test (NIPT) might show that your baby has a high chance of a chromosomal variation that’s linked to an intersex variation. Or an amniocentesis might show that your baby has a chromosomal variation linked to an intersex variation.

In this situation, your doctor or midwife might refer you to a specialised health professional, who can explain what might happen after your baby is born.

Birth
Sometimes intersex variations are identified when children are born and their genitals look different from what you might expect. These variations might mean that a baby’s sex isn’t obvious.

In this situation, your doctor will carefully examine your baby and might ask to do some tests to work out your baby’s sex. These might include tests of your baby’s blood, saliva or urine to learn more about your baby’s genes and chromosomes and the hormones your baby is making. Or your doctor might ask to do an ultrasound scan to look at your baby’s internal organs.

Not all genital differences mean that a baby has an intersex variation. For example, if your baby has an undescended testicle, it doesn’t always mean that they have an intersex variation.

Childhood
Some intersex variations are identified in late infancy or early childhood. For example, this might happen when children are being examined and treated for medical issues that turn out to be related to intersex variations. These issues might include differences in growth rate, hernias or heart conditions.

In this situation, the doctor treating your child might ask to do some tests or scans to get more information. Then they might refer your child to another doctor who specialises in children with intersex variations. This doctor might be an endocrinologist or a hormone specialist.

Puberty
Some intersex variations are identified when children start puberty and their bodies develop in ways that are different from what’s expected. For example, a child’s periods might not start as expected, or they might develop genital changes that aren’t expected for the sex they’ve been raised as, or their puberty might not start at all.

If you’re concerned that your child is late to start puberty or the changes of puberty aren’t what you and your child expect, it’s a good idea to see your GP. The GP might order some tests or scans and refer your child to another doctor who specialises in issues relating to puberty, like an endocrinologist or hormone specialist.

Adulthood
Some adults might find out they have intersex variations when they’re trying to have children of their own. Or they might find out because they’re experiencing muscle weakness and see a doctor about this. Very occasionally, some adults might find out because they develop a tumour on their gonads.

If your child has an intersex variation that’s identified during childhood or adolescence, your child will be supported by a health care team that includes your GP, medical specialists and other health professionals. It’s important for this health care team to include health professionals like psychologists, who can support your child’s wellbeing.

Treatment and support for children and teenagers with intersex variations

With the right support, most children and teenagers with intersex variations lead happy and healthy lives.

If your child has an intersex variation, you and your child can get support, information and guidance about treatment from your child’s health care team. People who have lived experience of intersex variations are also an important source of support. This information, guidance and support will help your child develop well.

Your child might need or benefit from different types of treatments or support at different times in their life.

Treatment for medical and health needs

Occasionally, babies whose intersex variations are identified at birth might need immediate treatment for conditions that would otherwise affect their health and development. For example, a baby might need surgery if they can’t urinate or pass bowel movements. Or very rarely, they might need to take certain medications so that their condition doesn’t become life threatening.

In later childhood and adolescence, some children whose gonads can’t produce sex hormones might need hormone medicines to help them go through puberty. Puberty is important not just for sexual development but also for heart, brain, bone and other areas of development.

If this is your child’s situation, your child’s health care team will help you understand the treatment they’re proposing and why your child needs it.

Medical specialists might also suggest surgical procedures or other treatment to change the way your child’s body looks and functions or the way your child develops. These treatments are rarely urgent, but they can have long-term effects on your child’s mental health and wellbeing. If the question of these treatments comes up, it’s important to get advice from a psychologist, psychiatrist or peer support service, like Intersex Peer Support Australia (IPSA).

It’s also important for your child to have a say in decisions about these kinds of treatments, where possible.

Speak to your child’s health care team about which treatments need to happen when your child is born and which can be delayed until your child is old enough to make their own decisions with support.

Psychological support

At different times in their life, your child might find it helps to talk about their feelings about their intersex variation. This might include when your child first finds out about their intersex variation or if your child has concerns about other people’s reactions to their body. And sometimes your child might need support for mental health in childhood and mental health in adolescence.

GPs, peer support groups or the InterLink program can help you find someone for your child to talk to, like a psychologist or counsellor. Psychologists and counsellors can also support your child with decisions about surgical or other treatments.

If you notice concerning changes in your child’s behaviour or emotions, and these changes go on for more than a few weeks, it’s important to talk with your GP, your child’s main health professional or your child’s peer support group.

Peer support

Peer support services can help children and teenagers with intersex variations develop well and thrive. These services include Intersex Peer Support Australia (IPSA), InterAction for Health and Human Rights and dsdteens.

These groups:

• can give your child information about and support for living with an intersex variation
• can connect you and your child to other parents and children with similar experiences
• can connect you and your child with psychological support specifically for people with intersex variations
• might organise events and other activities where your child can connect with other people with intersex variations.

Looking after yourself when your child has an intersex variation

When you have a child with an intersex variation, it’s important to look after yourself. If you take care of yourself, you’ll be better able to care for your child.

It’s important to get support for yourself, especially if you feel worried or anxious. Peer support groups and your GP are good places to start. Your GP might also refer you to a psychologist.

If your GP isn’t familiar with your child’s intersex variation, it’s OK to find another GP. Or your child’s health care team might be able to give your GP some information about your child’s intersex variation, so that your GP can support you and your family.

Many families have children with intersex variations, and it might help to talk to other parents with similar experiences. You can connect by joining a support group like Intersex Peer Support Australia (IPSA) or by joining a support group for your child’s specific intersex variation.

And learning about your child’s intersex variation and what it means for your child can help too. You could talk to your child’s health care team, your GP or a genetic counsellor to get more information.