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47, XXY, KS

47,XXY (Klinefelter syndrome)

(Diagnostic terms change over time, and this trait is also known as: Klinefelter Syndrome, 47, XXY, or XXY. Some people may abbreviate Klinefelter syndrome as KS or Klinefelters).

While this resource focuses on the most common variation 47, XXY there are also other, less common variations such as 48, XXXY, 48, XXYY and 49, XXXXY. These share many similarities with 47, XXY, however there are significant differences and considerations that are not covered in this resource.

What is 47, XXY?

  • 47, XXY is a genetic variation of the sex chromosomes. Sex chromosomes carry genetic information related to our sexual development.
  • Sex chromosomes are typically XX (typically assigned female at birth) or XY (typically assigned male at birth).
  • 47, XXY is commonly caused by an additional X chromosome on an XY pair, resulting in 47 chromosomes rather than the typical 46 chromosomes, which is written 47, XXY.
  • Because people with 47, XXY have a Y chromosome, they generally have male anatomy and are typically assigned male at birth. However, there are 47, XXY people who do not think of themselves as male.
  • 47, XXY occurs in around 1-2 per 1000 male births.
This resource focuses on the most common XY variation, 47, XXY. There are other variations such as 48, XXXY, 48, XXYY and 49, XXXXY which have distinct considerations which are not covered in this resource.

Causes of 47, XXY

  • While having one extra copy of the X chromosome in each cell (XXY) is the most common cause of 47, XXY, it can also be caused by an extra X chromosome in some of the cells. This is known as mosaicism or mosaic Klinefelter.
  • 47, XXY is not inherited.

Morris et al. (2008) Is the prevalence of Klinefelter syndrome increasing?

  • While uncommon, multiple children in one family may have XXY sex chromosomes.

Recognising 47, XXY

Increased use of genetic testing during pregnancy means doctors are identifying many genetic variations like 47, XXY earlier before physical signs are present. 47, XXY can also go undetected until puberty or even into adulthood, as indicators of 47, XXY in babies and children can be subtle. Only a relatively small percentage of people with 47, XXY ever realise or are diagnosed with the trait (but unlike statements to the contrary in much medical information, late diagnosed 47, XXY individuals state they have not been asymptomatic and report many of the life challenges experienced by other persons with 47, XXY, and discussed in this resource, throughout the lifetime).

Indicators for babies and children can include:

  • Delayed motor development (such as taking longer to roll over, sit, crawl, or walk).
  • Speech delays.
  • Low muscle tone.
  • Undescended testes.
  • Learning difficulties, such as dyslexia which presents as difficulty learning to talk or read.
  • Neurodiversity, such as ADHD or autism.

Indicators for adolescents and adults can include:

  • Absent or delayed puberty.
  • Lower muscle development.
  • Less body and facial hair.
  • Small testes or a smaller penis.
  • Taller than average height.
  • Long legs relative to a shorter torso.
  • Wider hips than is typical for a male.
  • More breast tissue than male peers.
  • Low testosterone, which can impact mood, energy levels, bone strength, sex drive, and sperm count.
  • Learning difficulties, such as dyslexia (which may present as difficulty learning to talk or read).
  • Neurodiversity, such as ADHD or Autism.
  • Depression.

If you notice any of the above indicators of 47, XXY you may wish to talk to your doctor about screening. It can be useful to identify 47, XXY so you can address any associated health concerns, as needed.

Health Considerations

Most people with 47, XXY live full, happy, and healthy lives. However, there are some health considerations to be aware of. Infertility tends to be the main challenge, and people with 47, XXY are also at a slightly increased risk of developing other health problems, including:
  • Type 2 diabetes.
  • Weak bones (osteoporosis).
  • Structural genitourinary differences.
  • Metabolic syndrome.
  • Dental issues.
  • Cardiovascular disease and blood clots.
  • Autoimmune disorders (where the immune system mistakenly attacks the body, such as lupus).
  • Anxiety, learning difficulties, and depression.
  • Male breast cancer – although this is rare, 47, XXY individuals have a 20-60% increased risk compared to 46 XY individuals. 47, XXY Mosaic individuals have the higher risk range.
You can speak with your doctor about options to reduce the risk of some of these conditions.

Health Considerations

Some health issues associated with 47, XXY can be treated if required, or if that is your preference. The Australian Human Rights Commission recommends minimal medical intervention for people with innate variations until a person is of an age to consent to treatment, unless there is a clear medical reason to intervene.
Talk with a doctor you trust to establish a healthcare plan that is individualised to your needs. Your healthcare plan can 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.

Treatment and Gender

Treatment pathways may be recommended based on the assumption that most individuals with the 47, XXY variation will grow up to understand themselves as men, and that it is preferable to make bodies fit stereotypical male characteristics as much as possible. However people with 47, XXY understand themselves in many different ways, and all understandings are equally valid. Therefore, it is worth taking 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.

Low Hormone Production and Hormone Replacement Therapy

Reduced testosterone is common in individuals with 47, XXY. Impacts of low testosterone 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.
  • Low mood.
  • Low sex drive.
  • Fertility challenges, including low-no sperm count.

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

  • Maintaining bone health.
  • Increased muscle mass and strength.
  • Initiating or progressing puberty.
  • Alleviating low mood or personal distress.
  • Increasing sex drive.
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 47, XXY want to take testosterone. Counselling and peer support can help determine the best decision for you.

Surgical Interventions

Some people with 47, XXY may be recommended, or seek out, chest masculinisation surgery to address gynaecomastia or any unwanted breast tissue that is developed. It is important that surgery 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.

Fertility Treatment

Infertility can be challenging or distressing for many people with 47, XXY as low hormone production typically results in low to no sperm production.

For people with 47, XXY who would like to become parents, Assisted Reproductive Technologies can help. These include:

  • Microscopic testicular retrieval of sperm (MicroTESE).
  • Intracytoplasmic Sperm Injection (ICSI).
  • Exploring the use of donor sperm.

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

  • Maintaining bone health.
  • Increased muscle mass and strength.
  • Initiating or progressing puberty.
  • Alleviating low mood or personal distress.
  • Increasing sex drive.
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 Treatment

Examinations and Photography

You may need to undergo regular examinations to understand how your body is functioning. This includes genital and other physical 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. More guidance on paediatric genital examinations and photography is available at
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.

Ongoing Care

There are options to support you or your family member with other challenges associated with 47, XXY, including:

  • Speech and language therapy, where there are noted delays in a child’s development.
  • Teaching adjustments to help address dyslexia and challenges associated with neurodiversity.
  • Physical therapy to help build muscle mass.
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 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 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).
  • Dentists and orthodontists.
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. 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 47,XXY.

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 47,XXY 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

  • Australian X and Y Spectrum Support https://axys.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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