Androgen Insensitivity

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(Diagnostic terms change over time, and this trait is also known as: Androgen insensitivity syndrome (AIS), Complete Androgen Insensitivity syndrome (CAIS), Partial Androgen Insensitivity syndrome (PAIS), Mild Androgen Insensitivity syndrome (MAIS), Androgen receptor deficiency, Androgen resistance syndrome, Dihydrotestosterone receptor (DHTR) Deficiency, and less commonly as Morris syndrome, Reifenstein syndrome Gilbert-Dreyfus syndrome, Lubs syndrome or Testicular feminisation)

What is Androgen Insensitivity

Androgen insensitivity is diagnosed in individuals with typical 46, XY chromosomes.
While this is generally understood to be a typical ‘male’ chromosome pattern, androgen insensitivity means that a person’s body cannot respond typically to masculinising hormones (androgens) and therefore develops differently in utero.
There are three main types of androgen insensitivity depending on the degree to which testosterone is blocked in the body, affecting how the body develops before birth and during puberty. These types are labelled as complete (CAIS), partial (PAIS) and mild (MAIS).

There are two types of MRKH which are classified by how the variation is expressed in the body.

Complete Androgen Insensitivity (CAIS)

People with CAIS :

Are completely non-responsive to masculinising hormones.
Are generally assigned female at birth.
Have typical female external anatomy.
May not be diagnosed until puberty or early adulthood.

Partial Androgen Insensitivity (PAIS)

People with PAIS:

Are partially responsive to masculinising hormones.
May be assigned female or male at birth, usually based on their anatomical presentation.
Can have a range of external anatomical features.
Usually diagnosed from birth, in infancy or during childhood.

Mild Androgen Insensitivity (MAIS)

Type 1

People with MAIS:

Are mildly non-responsive to masculinising hormones.
Are generally assigned male at birth.
Have typical or near typical male external anatomy.
May not be diagnosed until puberty or early adulthood.

Where Does Androgen Insensitivity Come From

There are many different individual genetic traits that lead to androgen insensitivity.
Androgen insensitivity is most commonly inherited as a recessive trait on the female genetic line (2/3 of all cases).
Sometimes it isn’t inherited and can occur due to a new mutation in a gene.
Some people born with androgen insensitivity may become aware of, or already know about a family history of the variation (although past shame and secrecy may mean that this isn’t known).

As with all innate variations of sex characteristics, these differences can be understood and managed allowing people to live fulfilling lives. There are a range of treatments available to address and manage these conditions should they arise. We need to be able to understand our bodies to be able to look after ourselves, and there is nothing inherently shameful about how your body exists.

Recognising Androgen Insensitivity

Complete Androgen Insensitivity (CAIS)

Typical vulva with a small vaginal canal.
Development of female secondary sex characteristics during puberty, such as breast tissue and wider hips (due to levels of estrogen produced by all bodies, conversion of testosterone into estrogen, and complete insensitivity to androgens such as testosterone).
Absence of menstruation due to the absence of ovaries, a uterus and cervix (this is often what triggers a diagnosis).
Internal testes (this may be picked up initially as, or alongside a hernia).
No development of underarm or pubic hair.
Although people with CAIS have XY chromosomes, they will not develop male secondary characteristics such as body or facial hair, deepened voice, or increased muscle mass.

Partial Androgen Insensitivity (PAIS)

Development of some masculinised features (due to partial sensitivity to present androgens).
In girls and women their phallus may be understood as a large clitoris, and they may have a small vaginal canal.
In boys and men, the same phallus may be understood as a small penis, perhaps with hypospadias. You can read specifically about hypospadias here.
Internal testes may be present, or they may have descended.
At puberty people with PAIS may develop breast tissue and wider hips, but may also develop some male secondary sex characteristics such as body or facial hair, deepened voice, or increased muscle mass.
Body and facial hair is typically reduced.

Mild Androgen Insensitivity (MAIS)

Typical male genital anatomy or a small penis, perhaps with hypospadias.
Impacted or reduced sperm production.
Reduced body and facial hair.
Development of breast tissue during puberty.

If you have any concerns you may wish to talk to your doctor about screening for androgen insensitivity so you can address any associated health concerns, as needed.

Health Considerations

Most people with androgen insensitivity live full, happy, and healthy lives. However, there are some health considerations to be aware of.

For all people with androgen insensitivity there are risks pertaining to low hormones if hormone levels are not maintained. These include osteopenia and osteoporosis which weaken the bones and other health and wellbeing impacts to cognition, mood and sex drive.
Infertility is a concern for some people with complete androgen insensitivity due to the internal position of the testes and absence of ovaries, fallopian tubes and uterus
People with partial androgen insensitivity may have some fertility but this is individual and should be discussed with your doctor
For those with mild androgen insensitivity, fertility may be impacted or reduced
Infertility and risks for low hormones are highest for people who have had a gonadectomy (surgery to remove internal testes) as that results in infertility and removes a significant sight of testosterone and estrogen production from the body.

As with all innate variations of sex characteristics, these differences can be understood and managed allowing people to live typical lives. We need to be able to understand our bodies to be able to look after ourselves, and there is nothing inherently shameful about how your body exists.

Treatment Considerations

You can speak with your doctor about your options should you wish to address or manage the above aspects of your variation. It is also perfectly acceptable not to opt for any intervention or medical management.

The Australian Human Rights Commission recommends minimal medical intervention for people with intersex variations until a person is of an age to consent to treatment, unless there is a clear medical reason to intervene. You should be supported to make the decisions that are best for you.

Talk with a doctor you trust to establish a healthcare plan that is individualised to your needs. Your healthcare plan might include regular check-ups, any required regular testing or health screening, and medications that you may need. It is important that your doctor or health provider listens and responds to your preferences, explains the benefits and risks of any treatment they propose, and provides information about any alternative available options, including the decision to not undertake treatments.

Treatment and Gender

Genital appearance at birth will usually determine a person’s sex of rearing.

Different assumptions are placed on the gender identity of people with androgen insensitivity depending on the degree of the insensitivity and your anatomy. Some of these assumptions are that all people with complete androgen insensitivity identify as women/girls, that people with partial androgen insensitivity will identify as girls/women or boys/men in line with their anatomy and sex of rearing or that everyone with mild androgen insensitivity identifies as a boy/man.

While these may be true for many, or even most people, it is important to remember that people understand themselves in many different ways, and all understandings are equally valid.

Some treatment pathways are predicated on the idea that it is preferable to make bodies fit stereotypical characteristics as much as possible. It is important to take some time to consider your options, feelings and identity before proceeding with any non-urgent medical options. Access to psychosocial support, peers and community can help you to understand these options.

Hormone Replacement Therapy

Hormone replacement therapy (HRT) will be necessary for people with androgen insensitivity who naturally produce low levels of hormones or who have undergone a gonadectomy.

For Children and Adolescents

People with androgen insensitivity raised as girls are often given estrogen and progesterone to initiate or support a feminising puberty. Some people, however, will prefer to use testosterone, and may benefit from changing to that hormone or using a combination of estrogen, progesterone and testosterone.

Typically, people with partial androgen insensitivity who are raised male may be given testosterone to induce or support a masculinising puberty. Some people will prefer to use estrogen and/or progesterone and may benefit from changing to these hormones.

People with complete androgen insensitivity will not become masculine with testosterone therapy. Even so, some people with this variation may choose testosterone because of how it feels for them.

These are decisions that you should make for yourself based on how you understand your preferences, identity and body, alongside an awareness of all potential challenges and side effects that come with these hormonal therapies. Psychosocial support can assist in your decision making.

For Adults

If your body does not produce enough sex hormones, or if you have had a gonadectomy you may need to start or continue hormone replacement therapy, especially if you experience some of the impacts of low sex hormones.

All bodies require a balance of estrogen and testosterone, amongst other sex hormones. Impacts of low sex hormones can include:

Loss of bone density, which can lead to osteoporosis.
Osteoporosis causes the bones to become brittle and more vulnerable to fractures and broken bones.
Impaired cognition.
Low mood.
Low sex drive.
Fertility challenges.

Some people may like to take supplementary hormones to help with some of these issues.
The benefits of hormonal therapy can include:

Maintaining bone health.
Initiating, progressing or altering puberty.
Alleviating low mood or personal distress.
Increasing sex drive (if this is beneficial for you).

People can respond in different ways to different hormone treatments. Therefore, you and your healthcare provider should understand and manage the side effects and consequences of undergoing hormone replacement.

As with children, most women are usually only prescribed estrogen and progesterone, while men are prescribed testosterone. Some people will prefer to use other hormones in accordance with their identity, tolerances and preferences, and may benefit from changing their hormone regime.

An increasing number of women with complete androgen insensitivity who have had a gonadectomy prefer testosterone-based hormone replacement and report a range of benefits. This testosterone therapy will have no masculinising effects and may naturally convert into a form of estrogen through a process called aromatase. Benefits include improved energy levels, mood, sex drive and bone health (Batista & Mendoca, 2018). Some doctors may be resistant to prescribing testosterone, so finding a good doctor is important. Peer support groups can also help make referrals.

Importantly not all people with androgen insensitivity want or need hormone replacement therapy. A supportive doctor, counselling and peer support can help determine the best decision for you.

Dilation

For people with complete or partial androgen insensitivity a non-surgical treatment called dilation may be suggested. Dilation is a process of gradually stretching and opening the vaginal canal with a series of insertable cylinder or tube-shaped devices called dilators.

It is important that dilation is only undertaken by choice when you are old enough to make an informed decision that this is something that you want to do and that is important to you. Dilation is mainly intended to help people who wish to receive penetrative intercourse where this may be uncomfortable, painful, or otherwise limited. For people who have had a vaginoplasty this is an important element of post-operative care and treatment, though it may be chosen even without surgery. It can be quite an involved process and can be as clinical or informal as is comfortable for you. Although vaginal lengths will vary, many people with androgen insensitivity reported dilating “naturally” with their partners without the use of dilators.

Surgical Interventions

Genital Surgeries

For people with partial androgen insensitivity, surgeries may be suggested in infancy or childhood to change or alter genital appearance (such as clitoral surgeries and labiaplasties) or function to fit gender stereotypes (such as penile surgeries and vaginoplasties). These kinds of treatments are largely proposed for social reasons and do not address any medical need.

Early surgeries come with risks and take away decision-making and options from the individual, who may grow up to understand their identity and values in ways that are incongruent with proposed early treatments. Sometimes these surgeries may be described or referred to as a ‘correction’ or using other similar language. This presumes that something needs to be ‘fixed’ when in reality the tissue is healthy and functional. It is best to defer these decisions until an individual is old enough to be involved in decision-making and consent to treatment. They may be illegal in some jurisdictions in Australia.

While genital surgery is not routinely necessary for most people with androgen insensitivity it is something that may be presented as an option for cosmetic reasons or be sought out to facilitate penetrative sex. Surgical options to create a “neovagina” should first be weighed up with the alternative option of vaginal dilation only. The latter is a less invasive option, and dilation can be done at a slower pace with support from medical practitioners or even with your partner with great results. Non-surgical approaches also open up the conversation around sexual pleasure and alternative ways to enjoy sex apart from penetrative sex.

Gonadal Surgeries

For people with complete or partial androgen insensitivity it is still common for gonadectomy to be suggested in childhood and adolescence though in general, it is preferable to not remove gonads that have potential for future hormone production, even if this may be incongruent with sex of rearing.

Gonads are typically removed to mitigate potential cancer risks. These risk factors are individual and should be discussed and understood on a case-by case basis. Some research has shown lower cancer risks for people with complete androgen insensitivity. It is always advisable to ask for more information from your care team and do your own research when navigating these conversations.

Potential cancer risks can be managed through routine monitoring and other non-surgical methods (Weidler, et al.2019).

Another common surgical procedure for people with partial or mild androgen insensitivity who have internal testes and a scrotum is called an orchiopexy. This surgery relocates undescended testes from the abdomen into the scrotum. Some people with complete androgen insensitivity may experience discomfort or pain from the position of their internal testes and choose to have an orchiopexy.

Relocating the testes can potentially improve fertility as the internal body temperature is much higher and associated with reduced fertility.

If you don’t have a scrotum or opt not to have your testes relocated you may choose to leave them where they are or choose to have them removed when you can provide fully-informed consent.

Fertility Treatment

Your fertility will depend on your anatomy, the type of androgen insensitivity you have, and the kinds of treatment you’ve received.

Infertility and impaired fertility can be challenging or distressing for many people with androgen insensitivity.

Testosterone is the primary hormone involved in creating sperm, and where the body is unable to process testosterone, this process cannot occur. As a result, many individuals with androgen insensitivity are considered infertile, particularly those who have complete androgen insensitivity.

People with androgen insensitivity also do not have a uterus which means that pregnancy is not possible. For people with partial or mild androgen insensitivity sperm may be produced, however it may be low in quantity or quality. If having children is important to you, you may wish to consider options that utilise Assisted Reproductive Technologies.

For Complete Androgen Insensitivity these include:

The use of donor sperm (if you have a partner with eggs and a uterus).
The use of donor sperm and donor eggs (if you have a partner with a uterus).
Surrogacy with donor sperm (if you have a partner with eggs).
Surrogacy with donor eggs (if you have a partner with a sperm).
Surrogacy with donor eggs and donor sperm or a donated embryo (if you do not have a partner, or your partner cannot or does not want to genetically contribute).

For Partial or Mild Androgen Insensitivity additional options may also include:

Microscopic testicular retrieval of sperm (MicroTESE).
Intracytoplasmic Sperm Injection (ICSI).

Fertility concerns should ideally be raised with a doctor early if you are considering having children. Where possible, your doctors can guide you through the steps and decisions you may need to make.

You may also wish to explore alternate family-building options. Parenting takes many shapes and forms such as adoption, step-parenting, foster care, parenting pets, being a godparent or playing an active role with nieces, nephews or cousins. Life is rich with opportunities to nurture, care for and provide guidance to others. Our families can be the ones we are born with but also the ones we choose for ourselves. This can include choosing to have a family without children.

When making any decisions about starting a family, take time to consider your view on your role you want to play in your family and acknowledge the impact of social pressures to conform to traditional ideals about parenthood.

Health Monitoring and Other Treatments

Examinations and photography

You may need to undergo regular examinations to understand how your body is functioning. This includes genital examinations. Ask how these can be reduced in number, or if they need to go ahead at all.

If you are a parent or carer, you may be asked if photographs can be taken of your child’s genitals, this is not usually necessary, so it is important to ask why it is being suggested. This is sometimes done to minimise the need for future genital examinations, however, should be fully considered due to the distress they can cause the individual later in life. These photographs will not be distributed without your explicit consent as the parent/individual. If you’re uncomfortable with a decision your parents made, you can ask for the photographs to be destroyed.

You can choose not to have genital examinations, or photography altogether, and may wish to ask whether the doctor is able to get the same information another way. As an adult, your permission must be sought to be examined by doctors, or medical students for education purposes. You should not feel compelled to agree. More guidance on paediatric genital examinations and photography is available at View More

Ongoing care

Because there are some health concerns associated with androgen insensitivity, there may need to be steps taken to monitor for particular health issues. A doctor should be able to advise you how to monitor for any relevant health concerns, including what needs to be tested and how regularly.

Some things you may be monitored for may include:

MRI or ultrasounds to monitor internal testes.
Bone density.
Hormone levels.

It may be helpful to prepare yourself before medical appointments by making a list of questions, topics or information you want to cover, taking notes, or to consider bringing along a support person with you to your appointment. These actions can help you to feel supported and in control of these interactions, and the information you have to make decisions with.

You may see many different kinds of doctors and health workers. Some people that may be involved in your care may include:

A psychologist or psychiatrist, who can help you consider your own treatment options, your wishes and support you and your family.
A social worker, peer navigator and peer support workers who can help you navigate health systems, connect you with community, and address any challenges.
Your general practitioner or family doctor.
An endocrinologist (to help with any hormonal management).
A gynaecologist (for anything to do with your anatomy, menstruation or sex).
A urologist (for anything to do with your anatomy, bladder or urination).
Surgeons involved in your care.
Fertility specialists (for any fertility support or assisted reproduction).
Sexual health specialists.
Pelvic health physiotherapists.
Sexologists and sexological bodyworkers.

You can ask your regular doctor about creating a care plan, and for referrals to community/peer support organisations. Other people have been through these circumstances before, and they can help you navigate medical and support systems.

If your body is producing healthy hormone levels and is functioning and developing in ways that you are happy with there is likely no need for any medical interventions. If you require hormone replacement therapy, you will need to regularly check your hormone levels and make adjustments as required. As always you should ask for written copies of the latest reports on outcomes so that you can access all the information about your body and health if and when you need access to it. It’s important for everyone to have adequate information about their body, in order to best manage your physical and mental health.

Working with a doctor is important to understand which of these health concerns are relevant to your body. Learning how to monitor and manage these conditions is an important aspect of living with androgen insensitivity.

Community and other supports

Many people have androgen insensitivity and some of them are public about it, including many leaders of the intersex movement. Well known people with androgen insensitivity include Tony Briffa, the first person who has been elected to public office to be public about having an intersex variation, and a mayor of Hobsons Bay in Victoria. Phoebe and Bonnie Hart are Australian sisters who are famous for the autobiographical movie Orchids: My Intersex Adventure. US intersex leaders with androgen insensitivity include Kimberly Zieselman, Sean Saifa Wall and Georgiann Davis. Some public stories about living with androgen insensitivity include:

Briffa, Tony. 2017. ‘My Experience as the World’s First Openly Intersex Mayor’. Intersex Day. http://intersexday.org/en/
first-intersex-mayor-tony-briffa/.
Hart, Phoebe. 2021. ‘Intersex Activism: Fighting for Our Rights’. Archer Magazine. https://archermagazine.c
om.au/2021/10/intersex-activism-fighting-for-rights/.
Wall, Sean Saifa. 2018. ‘Lessons From My Mom About Body Autonomy’. WUSSY MAG. https://www.wussymag.c
om/all/2018/11/7/lessons-from-my-mom-about-body-autonomy.
Zieselman, Kimberly M. 2020. XOXY a Memoir (Intersex Woman, Mother, Activist). London, United Kingdom: Jessica Kingsley Publishers.
Orchids: My Intersex Adventure is often available via libraries – https://www.kanopy.com/
en/product/orchids-my-intersex-adventure-2

Although androgen insensitivity may be different to other intersex variations, the many struggles faced from the medical community and society more generally, are universally experienced by the intersex community. There are great benefits in connecting with people with androgen insensitivity, and also with people who have other intersex variations.

Seeing, being and interacting with people with similarly diverse bodies can help you make informed decisions free from external pressure through families, doctors or societal norms.

Supports available for individuals and families in Australia

InterLink psychosocial support service – https://ilink.net.au
InterAction for Health and Human Rights – https://interaction.org.au/
IPSA – Intersex Peer Support Australia (formerly the Androgen Insensitivity Syndrome Support Group of Australia) – https://isupport.org.au/

Reference

Weidler, Erica M., Maria E. Linnaus, Arlene B. Baratz, Luis F. Goncalves, Smita Bailey, S. Janett Hernandez, Veronica Gomez-Lobo, and Kathleen van Leeuwen. 2019. ‘A Management Protocol for Gonad Preservation in Patients with Androgen Insensitivity Syndrome’. Journal of Pediatric and Adolescent Gynecology 32 (6): 605–11. doi:10.1016/j.jpag.2019.06.005.

Androgen Insensitivity

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