Klinefelter Syndrome

Our bodies are made up of trillions of cells.

In each cell, there are tiny structures called “Chromosomes”.

Most of us receive 23 chromosomes from our mother, known as the maternal copy, and 23 chromosomes from our father, known as the paternal copy (46 in total).

A person who is assigned as a male at birth will have one X chromosome and one Y chromosome.

When someone is diagnosed with Klinefelter Syndrome, it means they have an extra X chromosome in all their cells (47 in total). 

There is 1 type of Klinefelter Syndrome:

1. Mosaic Klinefelter Syndrome: This means the person has an extra X chromosome in some of their cells

Klinefelter Syndrome involves a wide range of symptoms and severities which means that every person will present differently.

Symptoms in children and adults can include:

• Delayed development

  • Not sitting, crawling, walking, or talking

• Learning difficulties

• Speech difficulties

• Having a Mental Health disorder

  • Depression

  • Anxiety

• Physical features

  • Long arms and legs

  • Tall height

  • Less facial and body hair

• Reduced ability to make enough of testosterone or sperm

• Underdeveloped genitals

• Delayed start for puberty

• Increased breast tissue

• Hypotonia (low muscle tone)

• Weak muscles

• Osteoporosis (weak bones)

• Problems with infertility

• Type 2 diabetes

• Obesity

• Problems with eyesight

• Difficulty with attention

• Difficulty with socialising

Klinefelter Syndrome happens randomly and there is no research to explain why. 

Research suggests that the risk of someone being born with Klinefelter Syndrome is increased if the mother or father are older.

Klinefelter Syndrome can be diagnosed before birth with prenatal tests.

After birth, Klinefelter Syndrome can be confirmed with a blood test.

While there is no cure for Klinefelter Syndrome, diagnosis and specifically tailored treatment are important for improving quality of life.

Services available to help with Klinefelter Syndrome include:

Paediatrician: A Paediatrician can provide hormone treatment for growth and muscle development and also help to treat and provide routine childhood care.

Physiotherapist: A Physiotherapist can help improve posture, balance, and movement.

Psychology: A Psychologist can help to develop emotion regulation skills.

Positive Behaviour Support: A Behaviour Support Practitioner can help to understand behaviours of concern, provide strategies, and build skills.

Occupational Therapy: An Occupational Therapist can support independence and participation in daily life.

Speech Pathology: A Speech Pathologist will focus on developing communication skills.

1. Klinefelter Syndrome is also referred to as the “XXY Syndrome”

2. Symptoms of Klinefelter Syndrome may be so mild that many males don’t know they have it until later in life

3. Klinefelter Syndrome affects 1 in every 1000 males born in Australia

Centre for Genetics Education

https://www.genetics.edu.au/PDF/Klinefelter_syndrome_fact_sheet-CGE.pdf

Cleveland Clinic

https://my.clevelandclinic.org/health/diseases/21116-klinefelter-syndrome

Health Direct

https://www.healthdirect.gov.au/klinefelter-syndrome

Healthy Male

https://healthymale.org.au/mens-health/klinefelter-syndrome

Mayo Clinic

https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949

Medline Plus

https://medlineplus.gov/genetics/condition/klinefelter-syndrome/#causes

National Health Service

https://www.nhs.uk/conditions/klinefelters-syndrome/

National Library of Medicine

https://www.ncbi.nlm.nih.gov/books/NBK482314/

Nemours Kids Health

https://kidshealth.org/en/parents/klinefelter-syndrome.html

Science Direct

https://www.sciencedirect.com/science/article/abs/pii/S0140673604166786