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Birla Fertility & IVF

Klinefelter Syndrome: Causes, Symptoms, and Risk Factors

  • Published on July 28, 2022
Klinefelter Syndrome: Causes, Symptoms, and Risk Factors

Every living cell in the human body has chromosomes in its nucleus. A chromosome is a threadlike structure of nucleic acids and protein, which carries important genetic information in the form of genes.

Most people have 46 chromosomes – one X and one Y for females and two Y chromosomes for males. However, an anomaly that occurs in some male babies has come to be known as Klinefelter syndrome. 

What is Klinefelter Syndrome?

Some baby boys are born with a unique chromosome configuration. Instead of the usual 46, they are born with 47 chromosomes – two X chromosomes and one Y chromosome. This genetic condition is referred to as the XXY chromosome disorder or XXY syndrome.

It’s important to know more about this syndrome as it impacts the size and shape of the anatomy, sexual wellness, and overall health of the person.

Being aware also enables parents of children with Klinefelter syndrome as well as adults to access the support and medical attention they need.

Causes of Klinefelter Syndrome

The genesis of this syndrome can be traced back to the conception process.

During conception, the mother has one X chromosome in the ovum or the egg cell, and the father can have either an X or Y chromosome in the sperm. Typically, when an X chromosome in the sperm meets an egg with an X chromosome, it results in a female baby.

If the sperm holds a Y chromosome and meets an X chromosome in the egg, it results in a male baby. However, sometimes an additional X chromosome finds itself in the equation if the sperm cell or egg carries an extra X chromosome and the cells may divide incorrectly while the fetus is developing.

This results in the genetic condition known as Klinefelter syndromemeaning they will be living with certain challenges throughout their lifespan.

How is Klinefelter Syndrome diagnosed?

Klinfelter Syndrome Diagnosis

Specialists who diagnose disorders will conduct several tests to determine if your child has Klinefelter syndrome.

These can include hormone testing, where a blood or urine sample can help detect abnormal testosterone levels. These may be caused due to the presence of Klinefelter syndrome.

They may also do a chromosome or karyotype analysis. Here, a blood sample is taken and sent to the lab to investigate the shape and number of chromosomes. Correct diagnosis is extremely important so that the syndrome can be treated early on.


Klinefelter Syndrome symptoms

Klinefelter syndrome impacts the human anatomy in several ways, and it may manifest as both physical and intellectual challenges.

Having said that, those with the syndrome can live normal lives, and not everyone displays the same severity of symptoms.

Here is the spectrum of physical symptoms for Klinefelter syndrome:

  • Babies with this syndrome are typically born with a smaller-sized gentile (males). Additionally, the penis may not have dropped into the scrotum, resulting in an undescended penis.
  • Klinefelter syndrome causes the body to be sized disproportionately. For example, the baby may be born with long legs and a very tiny trunk. The arms and feet may also experience fusion while in the womb, resulting in conditions like flat feet.
  • Research indicates that XXY chromosome disorder can result in impaired motor function, leading to difficulty in navigating motor skills and delays in development.
  • The body may not be equipped to produce enough testosterone, leading to a lower sperm count.
  • The patient can also experience increased breast tissue growth as they move into adulthood.
  • Klinefelter syndrome causes the bones to be susceptible to fractures, as well as other types of bone damage due to the early onset of osteoporosis during adulthood.
  • People with this syndrome experience an increased risk of blood clots with age, which may result in related autoimmune disorders such as lupus.
  • They are also at a higher risk of conditions such as Type 2 diabetes and cardiovascular disease.

Intellectual challenges that accompany Klinefelter syndrome include:

  • Can trigger certain social and behavioural issues, including erratic behaviour and conditions such as Attention Deficit Hyperactivity Disorder (ADHD).
  • Due to hormonal imbalances, Klinefelter syndrome causes depression and anxiety in some people.
  • Children can experience learning disabilities such as difficulty in reading and can also experience speech delays.

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Klinefelter Syndrome risk factors

Men with this syndrome typically have low testosterone levels, which can impact their sexual activity.

Low testosterone levels also have a direct impact on the fertility levels of people with Klinefelter syndrome. This means that it may be challenging for them to biologically father children, though this is not always the case.

It is advisable to consult a specialist doctor for the right diagnosis and treatment.



If parents observe any Klinefelter syndrome symptoms in their child, they are advised to visit a specialist equipped to diagnose and treat disorders.

Treatment can include several interventions such as testosterone replacement therapy, occupational, physio, and speech therapy, learning/disability therapy, and counselling therapy through the years. Getting regular medical check-ups done every year can also help.

Counselling can play a transformative role, especially when dealing with medical therapies through teenage and adulthood. With the right diagnosis, treatments, and emotional support, a child born with Klinefelter syndrome can live a long, happy, and fulfilling life.

To seek the best treatment for infertility concerns, visit Birla Fertility and IVF, or book an appointment with Dr. Sugata Mishra


What happens in Klinefelter syndrome? 

Males born with Klinefelter syndrome have 47 chromosomes instead of 46. They experience a range of physical and intellectual challenges. This may result in higher exposure to conditions like diabetes, osteoporosis, disabilities, cardiovascular disease, and infertility.

Can a girl have Klinefelter syndrome?

No girls cannot be affected by Klinefelter syndrome.

What is the life expectancy of a male with Klinefelter syndrome? 

There are conflicting views about life expectancy. However, some research indicates that there is a significant increase in mortality risk of up to 40% in those living with Klinefelter syndrome due to the potential health problems caused due to the lack of medical care and support.

Can males with Klinefelter syndrome have babies?

Over 95 to 99% of men with this syndrome are unable to naturally father a child due to their inability to produce enough sperm. However, there are certain medical procedures, such as Intracytoplasmic Sperm Injection (ICSI), where the sperm is removed using a biopsy needle and injected directly into the ovum, enabling them to have biological children.

Does Klinefelter syndrome affect mental health?

Yes, it causes certain social and behavioural issues and can trigger anxiety and depression. Counselling and therapy can support those living with Klinefelter syndrome to cope with their condition better.

Written by:
Dr. Sugata Mishra

Dr. Sugata Mishra

Dr. Sugata Mishra is a fertility specialist known for her expertise in the field of reproductive medicine. She has clinical experience of over 5 years in feild of infertility and more than 10 years in GYN & OBS. Over the years, she has honed her skills in addressing complex fertility challenges such as cases of recurrent pregnancy loss, RIF and endoscopic surgery. Also, she combines fertility expertise with compassionate care, guiding patients towards their dream of parenthood. Dr. Mishra is known for her patient-friendly demeanor, ensuring that every individual feels supported and understood throughout their treatment journey.
Kolkata, West Bengal

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