AIS - Androgen Insensitivity Syndrome

Symptoms of Androgen Insensitivity Syndrome

Causes of Androgen Insensitivity Syndrome

Diagnosing Androgen Insensitivity Syndrome

Living with Androgen Insensitivity Syndrome

Androgen insensitivity syndrome (AIS) is a rare condition that affects the development of a child's genitals and reproductive organs.

A child born with AIS is genetically male, but the external appearance of their genitals may be female or somewhere between male and female.

Someone with AIS may benefit from psychological support, and in some cases may have treatment to alter the appearance of their genitals.

Most people born with the condition are unable to have children, but they'll otherwise be perfectly healthy and able to lead a normal life.

What causes AIS?

AIS is caused by a genetic fault that's usually passed on to a child by their mother.

This genetic fault means that, despite being genetically male, the body doesn't respond to testosterone (the male sex hormone) properly and male sexual development doesn't happen as normal.

This means the penis doesn't form or is underdeveloped. The child's genitals may appear female, or between male and female, but they don't have a womb or ovaries and have fully or partially undescended testicles.

Women who carry the genetic fault won't have AIS themselves, but there's a one in four chance each child they have will be born with the condition.

Types of AIS

There are two main types of AIS, which are determined by how much the body is able to use testosterone. These are:

complete androgen insensitivity syndrome (CAIS) – where testosterone has no effect on sexual development, so the genitals are entirely female
partial androgen insensitivity syndrome (PAIS) – where testosterone still has some effect on sexual development, so the genitals are often between male and female

PAIS is usually noticed at birth because the genitals appear different.

CAIS can be more difficult to spot, as the genitals usually look normal for a girl. It's often not diagnosed until puberty, when periods don't start and pubic and underarm hair doesn't develop.

Living with AIS

Children with AIS and their parents are supported by a team of specialists, who will offer ongoing care and support. They will help you decide whether to raise your child as a girl or a boy while they're still very young.

Most children with CAIS are raised as girls, while those with PAIS can be brought up either as girls or boys. It's up to you as a parent, with help from specialists, to decide what you think is in the best interests of your child.

Once you've decided, you can learn about the treatments available that can help make your child's body look more consistent with the chosen gender and help them develop more naturally.

This may involve surgery to alter the appearance or function of their genitals, and hormone treatment to encourage female or male development during puberty.

Support and advice

You and your child will be offered psychological support to help you understand and cope with the diagnosis of AIS. Children may not need this while they're very young, but they usually do as they get older.

You'll be given advice about how and when to discuss the condition with your child.

You may also find it helpful to get in touch with a support group, such as the Androgen Insensitivity Syndrome Support Group (AISSG) and DSD Families.

Information about your child

If your child has AIS, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.

Symptoms

Babies with androgen insensitivity syndrome (AIS) will be genetically male, but will either have female genitals or an appearance between male and female genitalia.

There are two main types of AIS, which affect people in different ways:

complete androgen insensitivity (CAIS)
partial androgen insensitivity (PAIS)

The main features of these two types are outlined below. Read more about the types of AIS.

Complete androgen insensitivity syndrome

CAIS isn't usually obvious from birth, as affected babies have female genitals – including a vagina and labia (flaps of skin either side of the vaginal opening) – and are raised as girls.

They'll also have undescended testicles, but this won't be obvious unless they cause a hernia (where they push through a weakness in the surrounding tissue) or swelling in the labia.

The first obvious symptoms often don't appear until puberty, which starts at around the age of 11.

When a girl with CAIS reaches puberty, she will:

not start having periods
develop little or no pubic and underarm hair
develop breasts and have growth spurts as normal, although she may end up slightly taller than usual for a girl

Girls with CAIS don't have a womb or ovaries, so are unable to get pregnant. Their vagina will also be shorter than normal, which may make having sex difficult.

Partial androgen insensitivity syndrome

The development of children with partial androgen insensitivity syndrome (PAIS) can vary.

In many cases, the genitalia are between male and female from birth. For example, affected babies may have:

a very small penis or an enlarged clitoris (the sexual organ that helps women reach sexual climax)
partially undescended testicles
hypospadias – where the hole that carries urine out of the body is on the underside of the penis, rather than at the end

Children with PAIS are usually raised as boys, although they may experience poor penis development during puberty and develop small breasts. Most children with PAIS raised as boys will be infertile.

Some children with PAIS are raised as girls. Like those with CAIS, girls with PAIS will not have a womb or ovaries and will be unable to get pregnant.

Causes

Androgen insensitivity syndrome (AIS) is caused by a genetic fault that means the body can't respond to testosterone properly. The faulty gene is usually passed on to a child by their mother.

Testosterone is the sex hormone produced by the testicles. It controls the development of the usual changes expected in boys, such as penis growth and the testicles moving into the scrotum.

How babies with AIS develop

In early pregnancy, all unborn babies have identical genitals. As they grow inside the womb, they develop either male or female genitals, depending on the pair of sex chromosomes they receive from their parents and their ability to respond to the sex hormones they make.

Sex chromosomes are bundles of genes – called X or Y – that play a vital role in a baby's sexual development. Females usually have two X chromosomes (XX), while males usually have one X and one Y chromosome (XY).

Children with AIS have male (XY) chromosomes, but the genetic fault they inherit prevents their body responding to the testosterone they make.

This means male sexual development doesn't happen as normal. The genitals appear female or between male and female, but a womb and ovaries don't develop internally.

How AIS is passed on

In most cases, the genetic fault is passed on to a child by their mother. The faulty gene is found on the mother's X chromosome.

As the mother has two X chromosomes, the normal chromosome is able to make up for the faulty one, so she is a carrier of the faulty gene, but doesn't have AIS and is able to have children.

Any genetically female (XX) children the mother has will also inherit two X chromosomes and will be unaffected, although they too may be carriers and be able to pass the genetic fault on to any children they have.

If the mother has a genetically male (XY) child, there's a chance they could pass on the faulty X chromosome, in addition to the Y chromosome the child gets from their father.

If this happens, the Y chromosome won't be able to make up for the faulty X chromosome and the baby will develop AIS.

This means women who carry the faulty X chromosome have a:

one in four chance of giving birth to a girl who is unaffected, but can pass on the altered gene to her children
one in four chance of having a boy who is unaffected
one in four chance of having a girl who is unaffected and doesn't carry the altered gene
one in four chance of having a child with AIS

Diagnoising

Androgen insensitivity syndrome (AIS) is sometimes diagnosed soon after a baby is born, although often it's not noticed until a child reaches puberty.

Doctors may suspect AIS based on a child's appearance and sexual development, but some tests will be needed to confirm the diagnosis.

Appearance and sexual development

Partial androgen insensitivity syndrome (PAIS) is usually spotted soon after birth because the genitals have an unusual appearance.

Complete androgen insensitivity syndrome (CAIS) isn't usually diagnosed at birth because the genitals look normal for a girl, although the condition may be picked up if the child develops a hernia.

Hernias are where an internal part of the body pushes through a weakness in the surrounding tissue. They can occur in babies with CAIS as a result of the testicles failing to move from the tummy into the scrotum.

When the baby has an operation to repair the hernia, the surgeon may find the testicles inside the hernia or in the tummy, and tests may be arranged to check for CAIS.

If a baby with CAIS doesn't develop a hernia, the condition may go undiagnosed until puberty, when she doesn't start having periods and doesn't develop pubic and underarm hair.

Read more about the symptoms of AIS and types of AIS.

Tests and scans

If AIS is suspected, blood tests can be used to:

check the sex chromosomes – sex chromosomes are bundles of genetic material that determine a person's genetic sex; if their genetic sex is different from their physical appearance, they may have AIS
check for a genetic fault – AIS is caused by a problem on the X chromosome, the sex chromosome a child with AIS receives from their mother
measure sex hormone levels – children with AIS tend to have high levels of testosterone (the male sex hormone) in their blood

An ultrasound scan can also be carried out to confirm the absence of the womb and ovaries. Children with AIS often have female genitals, but no female internal reproductive organs.

If a surgeon thinks they've found testicles in a baby's tummy during a hernia repair operation, a small tissue sample (biopsy) may be taken and analysed to confirm they are testicles and not ovaries.

Testing family members and unborn babies

If someone in your family has AIS and the specific genetic fault causing it has been identified, it may be possible to have a blood test to check if you carry the same fault and are at risk of passing it on to any children you have.

Testing can also be carried out in unborn babies when there's a known family history of AIS.

There are two main tests that can be carried out during pregnancy to determine whether a baby has the condition:

chorionic villus sampling (CVS) – a sample of cells are removed from the afterbirth (placenta) for testing, usually with a needle; this is usually carried out between the 11th and 14th weeks of pregnancy
amniocentesis – a needle is used to extract a sample of the fluid surrounding the baby, called amniotic fluid, for testing; this is usually carried out between the 15th and 20th weeks of pregnancy

It can be difficult to decide whether or not to have these tests, so it's a good idea to speak to a genetic counsellor first. It's also important to be aware CVS and amniocentesis are estimated to carry around a 1 in 100 chance of causing a miscarriage.

Living with AIS

Children with androgen insensitivity syndrome (AIS) and their parents will be supported by a team of specialists who can offer ongoing information and care.

Various treatment options are available to someone with AIS, including reconstructive surgery and hormone therapy.

However, psychological support and advice to help you deal with any issues that arise as a result of your child's condition is probably the most important aspect of care.

With appropriate care and support, most people with AIS are able to come to terms with their condition and lead normal lives.

Choosing your child's gender

As a parent of a child with AIS, one of the biggest decisions you'll have to make will be to choose which gender to raise your child as. You'll be given lots of information to help you make this decision.

Most parents of children with complete androgen insensitivity syndrome (CAIS) choose to raise their child as a girl, as they have female genitals and often ultimately end up identifying with being female.

The decision is more difficult if your child has partial androgen insensitivity syndrome (PAIS), as their genitals may have both male and female aspects. You're entitled to specialist advice about your child's future development and any gender identity issues that could arise later on.

Most children with PAIS stay with the gender they've been raised as. However, some people feel this doesn't represent who they are and decide to switch gender in later life.

Talking to your child about AIS

Parents often wonder when and what they should say to their child about their condition.

Many people feel it's best to explain the basic facts about AIS to the child as soon as possible. They can then be given more detailed information as they get older, as their ability to understand increases.

It's usually recommended that a child fully understands their condition before they reach puberty. This can be a stressful time anyway, but it could be very traumatic if your child starts puberty without knowing about the possible changes they may experience, or the differences between them and their friends.

The situation can be more difficult if a girl with CAIS isn't diagnosed until she has started puberty. The health professionals looking after your child can advise you on how to talk to your child and support you through this process.

Support for parents

If your child is diagnosed with AIS, you should be offered counselling to help you come to terms with your emotions.

A diagnosis of AIS can come as a shock to parents, and feelings of shame, guilt, anger and anxiety are common.

Talking to other parents who have a child with AIS may also help. There are organisations that can put you in touch with other families affected by the condition.

You can find contact details for the AIS Support Group (AISSG) on their website, or call the Contact a Family helpline on 0808 808 3555.

Support for children

Some young children with AIS don't need psychological support because their condition is completely natural to them.

However, as a child gets older, they may need support from a therapist with experience in AIS to help them understand and cope with their condition.

A long-term relationship between the child and therapist is ideal so any new issues can be discussed as the child matures.

Surgery

Children with CAIS and PAIS will sometimes need surgery to help change their body and genitals to be more consistent with the gender they're raised as.

Some procedures may be best carried out while your child is still young, but others can be delayed until they're older.

Hernia repair

Children with AIS sometimes develop a hernia (where an internal part of the body pushes through a weakness in the surrounding tissue) soon after birth. This is a result of their testicles failing to move from the tummy to the scrotum.

This can be repaired by closing and strengthening the gap created in the surrounding tissues. The testicles may also be removed during another operation.

Removing the testicles

Girls with CAIS will usually have their internal testicles removed, as there's a very small risk they could become cancerous if left in place.

This procedure is often delayed until after puberty because the testicles produce hormones that help girls with CAIS develop a normal female body shape without hormone treatment, and the risk of the testicles becoming cancerous before adulthood is extremely low.

If you decide you'd prefer for your child's testicles to be removed before puberty, hormone treatment will be needed to help them develop a more female body shape.

Moving the testicles and reconstructing the penis

Boys with PAIS may be born with fully or partially undescended testicles. If this happens, an operation can be carried out to move the testicles into the scrotum.

Read more about treating undescended testicles.

Surgery can also be carried out to straighten the penis and correct hypospadias, where the hole that carries urine out of the body is on the underside of the penis, rather than at the end.

Vaginal surgery

Girls with AIS often have a shorter vagina than normal, which can make having sex difficult. Treatment for this is usually delayed until after puberty, so she can decide if she wants treatment for it and choose what treatment she prefers.

In many cases, surgery isn't necessary because the vagina can be lengthened using a method called dilation. This involves inserting small plastic rods that gradually widen and deepen the vagina.

Alternatively, a procedure to remove skin and tissue from the genital area and use it to reconstruct the vagina can be carried out.

Women with PAIS can also have surgery to reduce the size of their clitoris. This may make it less sensitive, but achieving an orgasm should still be possible.

Male breast reduction

Boys with PAIS will sometimes experience some breast development around puberty. If this occurs, an operation can be carried out to remove the breast tissue.

Hormone therapy

If the testicles are removed when a girl with CAIS is a child, treatment with the hormone oestrogen (the female sex hormone) is usually started at the age of 10 or 11, so female development begins at an age consistent with puberty.

This won't cause periods to start, as people with CAIS don't have a womb, but it will help them develop a more female body shape. It will also be continued after puberty to stop them developing menopausal symptoms and weak bones (osteoporosis).

Women with CAIS who had their testicles removed after puberty will also need to take oestrogen to prevent the menopause and osteoporosis.

Children with PAIS may also need to take hormone supplements. Girls with PAIS who have their testicles removed may need oestrogen to encourage puberty.

Boys with PAIS may need androgens (male sex hormones) to encourage certain male characteristics, such as the growth of facial hair, penis growth, or deepening of the voice.