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45, XO, TS

45, XO, TS

Turner syndrome is also known as 45,X, 45,X0, monosomy X and Ullrich-Turner syndrome. Some people may abbreviate Turner syndrome as TS or Turners

What is 45, X0 (Turner syndrome)?

  • Turner syndrome is a genetic variation caused by the complete or partial absence of a second sex chromosome.
  • There are a few types of this variation, depending on whether a second chromosome is absent or incomplete, and whether it exists in some parts of a person’s body or throughout.
  • The main type accounts for 50% of people with Turner syndrome who have just one sex chromosome. This means a person has a total of 45 chromosomes, instead of the typical 46. This is written as 45, X0.
  • Mosaic Turner syndrome accounts for 30-40% of Turner syndrome and is where the second chromosome is absent in some, but not all cells in the body. The other cells have the typical two sex chromosomes, either XX (this is written as 45,X0/46,XX) or XY (this is written as 45,X0/46,XY).
  • 10-20% of people with Turner syndrome have a form where the second X chromosome is incomplete.
  • This document focuses on the main type 45, X0, however much of the information is common across all types.
  • You can read more about the Mosaic types in Mosaicism

Where does 45, X0 come from?

  • This variation is a result of differences that occur before conception when eggs and sperm are formed, rather than something that is inherited or that happens during a person’s development.
  • When eggs and sperm are produced there is a random possibility that an X or Y chromosome is dropped. The egg or sperm cells still have all the other chromosomes so it can fertilise, or be fertilised by, another egg or sperm cell.
  • If this happens the child only receives one sex chromosome (always an ‘X’) from one genetic parent.
    How this is expressed in the child varies greatly.

Recognising 45, X0

People with Turner syndrome can present with a number of distinctive physical features.
While these can be quite varied some features include:

  • Shorter than average height.
  • Characteristic features of the eyes, ears, neck (short, wide or webbed neck).
  • Low hairline at the nape.
  • Broad chest, scoliosis.
  • Narrow fingernails and toenails.
  • A small, lower jaw.
  • Delayed or absent puberty, affecting secondary sex characteristics such as breast and hip development.
    Irregular or absent periods.
If you have any or several of these characteristics you may wish to talk to your doctor about screening for 45, X0 so you can address any associated health concerns, as needed.

Health Considerations

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

  • Kidney and heart issues are more common in people with Turner syndrome and these may be detected from birth.
  • Susceptibility to ear infections can also lead to a higher rate of hearing loss in people with Turner syndrome.
  • Low fertility or infertility may be experienced with these variations, though this varies from person to person and depends on the location of your gonads and any previous medical interventions you may have had.
  • For some people there may be an increased risk of diabetes.
  • Thyroid issues can also present later in life.
  • Infertility or low fertility may also be a consideration for some people with Turner syndrome due to the underdevelopment of ovarian tissue, referred to as ovarian dysgenesis and/or low hormone production.
People with Turner syndrome may be more likely to have ADHD and other kinds of neurodiversity that can present challenges at school and work. As with all innate variations of sex characteristics, these differences and challenges 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 many 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. While the overwhelming majority of people with 45, X0 are assumed to be female and identify as girls or women, 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 that may alter your sex characteristics. Access to psychosocial support, peers and community can help you to understand these options.

Hormone Replacement Therapy

For Children and Adolescents

Children and adolescents may need to make a decision about whether to have a feminising puberty or not. It is common for hormonal interventions to be considered to help support development during puberty as the absence of a second sex chromosome (X or Y) affects how hormones are produced by the body.

Estrogen can help with the development of secondary sex characteristics such as breasts and hips if a feminising puberty is desired. For some people, hormone replacement therapy with testosterone may be considered if estrogen is not favourable or desirable.

Human growth hormone may also be indicated around puberty to support your growth and increase your adult height.

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

For Adults

If your body does not produce enough sex hormones such as estrogen or testosterone, 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.

Not all people with 45, X0 want or need hormone replacement therapy. Counselling and peer support can help determine the best decision for you.

Fertility Treatment

Infertility and impaired fertility can be challenging or distressing for many people with 45, X0. Some people with Turner syndrome produce their own mature eggs, however there may need to be some investigation into the quantity, quality and viability of these eggs when considering a pregnancy. These eggs may also be suitable for preservation if you are not certain or ready to consider a pregnancy. While pregnancy can be risky, it may be possible with the help of assisted reproductive technologies.

For people with 45, X0 who would like to become parents, Assisted Reproductive Technologies can help. These include:

  • In Vitro Fertilisation (IVF).
  • Exploring the use of donor eggs.
  • Surrogacy.

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. Ovarian tissue in people with Turner syndrome may be susceptible to “premature ovarian” failure, and subsequent loss of reproductive function. You may need to consider and make decisions about egg preservation (which is usually done prior to 21 years of age). This consideration is also shared by some people with gonadal dysgenesis and ovotesticular variations.

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.

Neurodiversity

For children and young people, monitoring for ADHD and other neurodiversity is an important part of getting the most out of school. Where relevant, parents may like to work with a child psychologist or occupational therapist to understand challenges in the educational environment and find ways to support their child at school. This can take the form of medication used to treat ADHD, alongside adjustments at school to accommodate a range of needs. This can often take the form of an individualised learning plan.

Other Treatments and Health Monitoring

Examinations and Photography

You may need to undergo physical examinations to understand how your body is functioning. This might include genital examinations. Ask your doctor 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/

Ongoing Care

Because there are several health concerns that can occur at a higher frequency in people living with Turner syndrome, there may need to be steps taken to monitor for particular health issues. Your 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 conditions you may be monitored for may include:

  • Kidney and heart function.
  • High blood pressure, obesity and diabetes.
  • Thyroid function.
  • Hearing loss.
  • Bone issues such as osteopenia, osteoporosis and osteoarthritis.
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.

Community and other supports

Connecting with community – including family, friends and peers is important for your mental health and wellbeing. Creating or finding a space where it is safe to explore or express what it means to you to have Turner syndrome can be rewarding and empowering. Connecting your experiences to others’ can also give you more tools to look after your physical health. Seeing, being and interacting with people with similarly diverse bodies can help you make informed decisions free from external pressure from families, doctors or societal norms.

Supports available for individuals and families in Australia
  • Turner Syndrome Association of Australia – https://www.turnersyndrome.org.au/
  • InterLink psychosocial support service – https://ilink.net.au
  • InterAction for Health and Human Rights – https://interaction.org.au/
  • IPSA Intersex Peer Support Australia (formerly AISSGA) – https://isupport.org.au/

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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