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Congenital Adrenal Hyperplasia

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Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

(Diagnostic terms change over time, and this trait is also known as Adrenogenital Syndrome)

What is Congenital Adrenal Hyperplasia

  • Congenital adrenal hyperplasia (CAH) is a genetic trait that affects people with XX or XY chromosomes.
  • CAH can look very different for individuals depending on the chromosomes they have.
  • For people with XY chromosomes, CAH does not produce variations in sex characteristics, but does come with its own set of health considerations.
  • For people with XX sex chromosomes, CAH can produce variations in sex characteristics.
  • CAH affects the kinds of enzymes and hormones produced in the adrenal glands (two small glands that sit on top of the kidneys). The adrenal glands are important producers of sex hormones such as estrogens and androgens.
  • Two other important hormones, aldosterone and cortisol, are also produced by the adrenal glands:
  • Aldosterone Is necessary for maintaining normal fluid volume of the body, sodium and potassium, which among other functions, stabilises the heart.
  • Cortisol controls blood pressure and regulates the body’s response to stress or danger, reduces inflammation, increases blood sugar levels and maintains adequate energy supply.
  • In CAH, too little cortisol and/or aldosterone are made, and higher levels of androgens are usually made.
  • Some types of CAH may require urgent medical care and treatment in cases of salt-wasting and adrenal crisis. You can read more about this under Treatment Considerations
  • Some Australian jurisdictions have introduced routine screening of newborns for CAH (21-hydroxylase deficiency).

There are several types of CAH but they are usually divided into ‘classic’ and ‘non-classic’ CAH.

Classic CAH

This variation is:

  • Typically identified from birth or in early infancy.
  • Can take two different forms:
  • – salt-wasting (SWCAH) (~75%).
  • – simple virilising (SVCAH) (~25%).

Non-Classic CAH

This variation is:

  • Typically identified in adolescence or adulthood.
  • Also known as late-onset CAH.
  • Has several overlaps with Polycystic Ovarian Syndrome (PCOS) and may be misdiagnosed.

Where Does Congenital Adrenal Hyperplasia Come From?

  • CAH is an autosomal recessive genetic trait. This means that it occurs when an individual inherits two copies of the gene associated with CAH (one from each genetic parent).
  • If you only have 1 copy of the gene you won’t have CAH, however you will be a carrier of CAH. This means that if you have children, they could have CAH.
  • Because of the genetic nature of CAH, it is more common in some populations and in some families. CAH is more common in people with Ashkenazi Jewish, Yupik, Eastern European, Mediterranean, South-East Asian or Hispanic background.
  • Approximately 95 per cent of cases are due to a deficiency of the enzyme 21-hydroxylase (due to a mutation of the CYP21 gene).
  • The remaining 5% of cases are caused by a deficiency of 11-beta-hydroxylase (due to a mutation of the CYP11B1 gene), 3-beta-hydroxysteroid dehydrogenase, or 17-alpha-hydroxylase.

Recognising Congenital Adrenal Hyperplasia

Classic CAH

Infants

  • Neonatal screening for CAH helps to prevent adrenal crises and related complications in newborns.
  • Babies with classic salt-wasting CAH usually have a life threatening, salt-wasting crisis during the first four weeks of life.
  • An adrenal crisis in an infant will usually look like poor feeding, weight loss, lethargy, and vomiting that does not allow the baby to thrive.
  • Infants with XX sex chromosomes (typically associated with girls) may have atypical or more masculinised genital appearance than is typical in girls.
  • Infants with XY sex chromosomes (typically associated with boys) may have genitals that are larger than typical for their age.
  • Increased pigmentation of their genitals and areolae. This is most common in infants with XY chromosomes.
  • Sex of rearing may not be established immediately as doctors will want to identify the type of CAH, which can take a few days.
  • In most cases, sex of rearing is informed by the child’s chromosomes and genital appearance.

Children and Adolescents

  • Precocious (early) puberty (acne, body hair, body odour) and sexual maturity.
  • Development of masculine traits in people with XX chromosomes.
  • Irregular or absent menstruation.
  • Rapid growth and attaining adult height at an early age, with shorter than average adult height.

Adults

  • Infertility or impaired fertility.

Non-Classic CAH

  • Typical genital appearance however, people with XX chromosomes may have a slightly more masculinised genital appearance than is typical in girls/women.
  • Precocious (early) puberty (acne, body hair, body odour) and sexual maturity.
  • Rapid growth and attaining adult height at an early age, with shorter than average adult height.
  • Masculinising puberty changes (increased muscle development, deeper voices).
  • Irregular or absent menstruation.
  • Polycystic ovarian syndrome (PCOS).
  • People with XY sex chromosomes may experience early balding, though this generally fits within typical ranges and there are no other significant indicators in people with XY chromosomes.
  • Fertility complications.
If you have any concerns you may wish to talk to your doctor about screening for CAH so you can address any associated health concerns, as needed.

Health Considerations

Most people with CAH live full, happy, and healthy lives. However, there are several health considerations to be aware of:
  • Life-threatening salt-wasting (salt retention, water retention and a rise in blood pressure to potentially harmful levels)
  • Adrenal crisis (indications include vomiting, low blood glucose, low blood pressure, and, diarrhoea)
  • Slow recovery from illness
  • Small-scale strokes (for people with 11-beta-hydroxylase deficiency)
  • Bone ageing
  • Infertility or impaired fertility
As with all innate variations of sex characteristics, these differences can be understood and managed allowing people to live typical 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.

Treatment Considerations

You can speak with your doctor about your options should you wish to address or manage the above aspects of your variation. Salt wasting and adrenal crisis always needs timely treatment, but with many other aspects of CAH it is perfectly acceptable not to opt for interventions 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

Some treatment pathways are predicated on the idea that it is preferable to make bodies fit stereotypical characteristics as much as possible. Different assumptions are placed on the gender identity of people with CAH depending on the type of CAH, your anatomy and your sex of rearing. Typical assumptions for CAH are that all people with XX chromosomes identify as women/girls and that everyone with XY chromosomes identifies as a boy/man in line with their anatomy and sex of rearing.

While this 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. 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.

Urgent and Necessary Treatments

Salt-Wasting

Salt-wasting is a life-threatening condition that requires timely medical intervention.

Not all types of CAH involve salt-wasting so it is important to understand if this impacts you. Salt-wasting is a condition where your body cannot retain enough sodium and large amounts are removed from your body in the urine, impacting your body’s salt and water balance.

Signs of salt wasting include:

  • Diarrhoea.
  • Nausea and vomiting.
  • Dehydration (water and sodium loss).
  • Not eating.
  • Weight loss.
  • Low blood pressure.
  • Shock (confusion, irritability, rapid heart rate, and/or coma).
  • Salt-wasting is indicated through blood tests for glucose levels and increased sodium, potassium and acidity in the blood.

Adrenal Crisis

Even if your CAH is managed and treated, people with salt-wasting CAH are still at risk of an adrenal crisis.

Adrenal crisis is a life-threatening condition brought about by physical stress, illness, and injury. When the body is experiencing these conditions, it requires additional adrenal hormones (cortisol and aldosterone) to maintain health. Adrenal crisis occurs when your body lacks enough of one or both of these hormones. Additional medication when experiencing physical stress, illness, and injury, can help prevent adrenal crisis.

Signs of adrenal crisis are similar to salt-wasting and also include:

  • Fatigue.
  • Dizziness.
  • Nausea.
  • Weakness.
  • Seizures.
Salt wasting and adrenal crisis may be interrelated and will require timely and considered intervention, which can be medically managed by your doctor. Typical treatments include glucocorticoids such as hydrocortisone, to replace the cortisol, and mineralocorticoids such as fludrocortisone to replace the aldosterone. These will need to be taken daily and will be prescribed, monitored, and managed by your doctor.

Surgical Interventions

For people with classic CAH some genital surgeries may sometimes be necessary for physical health and wellbeing. These may include addressing a blocked or obstructed vagina, a blocked urethra or urogenital sinus, or a vagina that does not allow discharge or menstrual blood to drain safely. These present genuine health risks to an individual and should be addressed in an appropriate time frame as determined by the treating medical team/specialists.

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

For children with congenital adrenal hyperplasia, surgery causes additional and unnecessary stress. Surgeries may also need to be followed by more treatments and surgeries later in life. 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.

Fertility Treatment

Fertility can be challenging or distressing for many people with CAH. Your fertility will depend on your anatomy and the type of CAH you have.

If having children is important to you, and you experience difficulty with your fertility you may wish to consider options that utilise Assisted Reproductive Technologies such as:

  • In Vitro Fertilisation (IVF)
  • The use of donor eggs
  • Surrogacy (with donor eggs or a donated embryo)

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 niece, 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.

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 https://www.rch.org.au/endo/for_
patients_and_families/Information_
about_genital_examinations/

Dilation

For people with CAH, 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 are managing a urogenital sinus or have had a vaginoplasty, dilation 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.

For Families

Even though people with CAH can live happy and fulfilling lives, parents and siblings of people with CAH may face pressure to use assisted reproductive technologies to reduce or eliminate the possibility of the birth of a future child with these traits. Dexamethasone treatments may also be suggested during pregnancy, but there is evidence that these cause risks to the developing brain. A 2013 Senate report recommended that these only take place as part of a structured clinical trial.

Ongoing Care

Because there are some health concerns associated with CAH such as adrenal crisis you may need to take steps to monitor for this, especially when you are experiencing stress, illness or injury. You may see many different kinds of doctors and health workers including:

  • 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 you are maintaining healthy hormone levels, and your body is functioning and developing in ways that you are happy with there is likely no need for any medical interventions. 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 CAH.

Community and Other Supports

Many people have CAH and some of them are public about it. Many leaders of the intersex movement have CAH. Well known people with CAH include Betsy Driver, the mayor of her town in New Jersey, USA, Bria Brown-King of interACT in the US, Laura Inter of Intersex Compass in Mexico, and Jeff Cagandham in the Philippines. Some public stories about living with CAH include:

Although CAH may be different to other innate 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 CAH, and also with people who have other innate 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
  • IHRA Intersex Human Rights Australia (formerly OII Australia) – https://ihra.org.au/
  • IPSA Intersex Peer Support Australia (formerly AISSGA) – https://isupport.org.au/

References

Hindmarsh, P. C., and Kathy Geertsma. 2017. Congenital Adrenal Hyperplasia: A Comprehensive Guide. London: Elsevier/Academic Press.

CONTACT

  • +61 7 3017 1724
  • info@ilink.net.au
  • PO Box 1372 Eagle Farm QLD 4009
InterLink is a program of InterAction for Health and Human Rights. We respect your rights when using  our services.
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