Psychological Problems Associated with Klinefelter Syndrome

Information prepared by Lisa Mawhood

Klinefelter syndrome is a genetic disorder caused by the acquirement of an extra X chromosome in males (XXY instead of XY) which results in stunted puberty, smaller than average genitals, the development of breasts and infertility.

Many men with Klinefelter syndrome lead a normal life and donít have any noticeable symptoms until they are being investigated for infertility when they try to start a family - but some have psychological problems such as depression, attention deficit disorder, schizophrenia, alcoholism and other behavioral disorders.

Causes of Psychological Problems in Klinefelter Syndrome

It is not known what makes XXY boys and men more prone to psychological problems and aggression, but it is thought to be a variety of reasons including hormones, learning difficulties, social pressures and physical illness.  

Speech and Learning Problems

Learning delays and speech difficulties are often the cause of disruptive behavior in younger school aged children with Klinefelter Syndrome.

Speech can occur much later than in a genetically typical child and when it does occur, there may be speech abnormalities that require intervention from a speech therapist.  Inability of his classmates to understand him can result in bullying and social isolation and make it more challenging for him to join in with games.  If his teachers struggle to communicate with him, he could fall behind with his work.  Some children with Klinefelterís are wrongly thought of as having intellectual deficits when in fact they are as intelligent as everyone else but they are not understood and the way they are taught does not allow them to reach their full educational potential.  This is why a child who is diagnosed in utero or in early infancy has the best chance of doing well in life.

Early intervention including an educational devised by teachers that accentuates his academic strengths and speech and behavioral therapy gives him the greatest chance of getting good grades and enjoying his school life.


Klinefelter Syndrome may sometimes be associated with autism spectrum disorder.  Boys who are being evaluated for behavioral problems and potential autism are occasionally found to have an extra X chromosome.  As autism has many varied psychological symptoms (such as avoidance of eye contact and difficulty understanding play) some of the behavioral symptoms in Klinefelterís may in fact be due to the childís autism or vica versa.

Genetic or metabolic causes for autism make up 10-15% of all patients assessed.  In this case, behavioral therapy and bio-medical treatments for autism may reduce antisocial symptoms in XXY boys.

Body Image Problems

Some boys with Klinefelter Syndrome develop breasts during puberty.  This is called gynecomastia and is associated with significant psychological problems if left untreated.  Breast growth in males, even when not caused by Klinefelterís, can make a teenage boy feel embarrassed, ashamed and humiliated.  He may be ridiculed and teased at school which in turn can lead to social isolation and loneliness.  This may be one of the reasons why more adolescents with Klinefelterís syndrome have depression.  There is surgery available for boys who are faced with this problem in the form of mastectomy Ė removal of the breast tissue.  Likewise, a teenager with small genitalia may also attract unwanted attention from his peers.  Communal showers are the dread of many XXY boys.

If you or a loved one is going through this, arrange a meeting with teaching staff and make sure they are aware of the body variations associated with having the condition.  They may allow an exemption from public changing rooms or other measures to make the situation easier.  

The Testosterone Debate

Some medical researchers have found that testosterone supplementation, the main treatment for Klinefelterís, can cause aggression.  One study published in the Archives of General Psychiatry found that testosterone supplementation of 600mgs a week caused manic symptoms in otherwise psychologically normal men but the effect wasnít seen in every man who took it.  Another paper theorized that it could lead to violent crime after a 16 year old boy taking anabolic androgenic steroids was convicted of murdering his 14 year old girlfriend.  He had no history of violence or antisocial behavior prior to taking steroids.

However, there are studies that say that testosterone supplementation might actually improve symptoms of aggression and behavioral disorders and that early identification of the syndrome and prompt treatment together with counseling are crucial for the long term positive outcome of the patient.

Medical Problems 

There are an array of medical illnesses that a person with KS is at higher risk of getting, for instance, breast cancer in men who have developed breasts.  Senior citizens can develop depression through dealing with medical problems that result from Klinefelterís Syndrome and worsen with age.  These health issues include osteoporosis (a weakening of the bones that can cause painful fractures), insulin dependent diabetes and other auto-immune diseases, such as lupus.  All of these conditions are disabling and can impact negatively on a personís life.  Learning to cope with pain and life with the condition can be difficult for many people. Working with doctors to ensure access to the best possible treatments and receiving emotional support from friends and family mean depression will be less likely.

Infertility and Depression 

On entering into a long-term relationship or marriage, men with a KS diagnosis may struggle with feelings of sadness and depression over their inability to father a child.  Thanks to modern science it is now possible for some men to overcome their infertility.  As sperm is found in the testes of around half of men with Klinefelterís it is possible to conceive with the aid of assisted reproductive technology.  Sperm can be retrieved from the testes via a biopsy and injected directly into the female partnerís egg in a process called intracytoplasmic sperm injection (ICSI).

However, the safety of ICSI is not entirely established and babies have been born after this form of assisted conception with Klinefelterís Syndrome.  Doctors arenít sure whether ICSI caused the genetic variation or whether the parentís propensity towards it was a factor in their infertility.  Either way, full genetic counseling should be given before the patient decides whether to embark on the treatment. Sperm donation or adoption are also possibilities to be considered on the journey to parenthood.

As upsetting as an infertility diagnosis is, most men find that with a decent partner, a job they enjoy and a supportive family, they can lead a happy and normal life.  If they have good support - even if they become ill later in life - they will be able to cope better with whatever life throws at them. 

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Last updated on March 20, 2018