Klinefelter Syndrome

February 2, 2017

Klinefelter syndrome (also called XXY syndrome), was first described in 1942 by Dr Harry Klinefelter and is one of the more common chromosomal conditions affecting males. An additional X chromosome is found in the cells of these affected boys, giving them two X chromosomes instead of the usual one (see later).

A syndrome is a condition distinguished by a number of features that often occur together. There are a number of features that can be present in Klinefelter syndrome.

Some affected boys will have more features of the syndrome than others and there will be a difference in the degree of severity of the symptoms between affected boys. In some cases, a diagnosis of Klinefelter syndrome is not made until a boy approaches puberty and some.

The effects can vary greatly and may include:

  • Infertility – the condition may be diagnosed when fertility problems are being investigated.
  • Reduced testicle size – in all males with Klinefelter syndrome, the testicles do not develop properly and are noticeably smaller from early adolescence.
  • Incomplete puberty – not enough of the male hormone testosterone is produced and puberty may appear to be delayed. These boys may be given testosterone treatment so they develop usual male physical characteristics like facial hair and a deeper voice.
  • Language and learning problems – in many males with Klinefelter syndrome, difficulties with speech, writing, or understanding and processing speech may be noticed.

Klinefelter syndrome occurs in around one in every 450 male babies, which makes it one of the most common variations of the chromosomes. However, only around a quarter of these males have a diagnosis of Klinefelter syndrome, also known as XXY syndrome. The additional X chromosome does not influence sexual orientation.


Most people have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The 2 sex chromosomes (X and Y) determine if you become a boy or a girl. Girls normally have 2 X chromosomes. Boys normally have 1 X and 1 Y chromosome.

Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Usually, this occurs due to 1 extra X. This is written as XXY.

Klinefelter syndrome stems from a random genetic event. The risk of a child being born with Klinefelter syndrome isn’t increased by anything a parent does or doesn’t do. For older mothers, the risk is higher but only slightly.


Not all makes with XXY actually develop the syndrome or its symptoms.  In fact, many males show no abnormalities at all.  However, for those who have developed KS, the following characteristics have been identified:

  • Sterility (normal sexual function, but inability to produce sperm)
  • Breast Development
  • Incomplete masculine build; round body type
  • Undersized testes
  • Social difficulties (may be less confident, more immature, shy, passive, apathetic, sensitive, dependent, and have a fragile self‐esteem)
  • Learning difficulties
  • Restless sleep patterns, yet difficult to awake in the morning
  • Lower level of activity
  • Lower level of endurance
  • Hand tremors
  • Frustration‐based outburst
  • Decreased growth of facial hair
  • Large stature (average height is 6’1/2”)
  • Overweight
  • Speech and language problems (receptive skills are higher than expressive)
  • Difficulty learning to read and write


Complications of Klinefelter syndrome can include –

  • Delayed puberty
  • Noticeable physical features, such as sparse facial and body hair, unusually long legs and arms, lack of muscular development, and enlarged breast tissue
  • Learning disabilities, attention problems or social development issues
  • Infertility
  • Weak bones (osteoporosis)
  • Increased risk of varicose veins and other problems with blood vessels
  • Increased risk of breast cancer and cancers of the blood, bone marrow or lymph nodes
  • Increased risk of lung disease
  • Increased risk of autoimmune disorders, such as type 1 diabetes and lupus
  • Increased belly fat, which can lead to other health problems
  • Problems with sexual function


Testosterone therapy is used to increase strength, promote muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration.

Most men who have Klinefelter syndrome are not able to father children. However, some men with an extra X chromosome have fathered healthy offspring, sometimes with the help of infertility specialists.

Most men who have Klinefelter syndrome can expect to have a normal and productive life. Early diagnosis, in conjunction with educational interventions, medical management, and strong social support will optimize each individual?s potential in adulthood.

Breast tissue removal – In males who develop enlarged breasts (gynecomastia), excess breast tissue can be removed by a plastic surgeon, leaving a more normal-looking chest.

Speech and physical therapy – These treatments can help boys with Klinefelter syndrome overcome problems with speech, language and muscle weakness.

Educational support – Some boys with Klinefelter syndrome have trouble learning and can benefit from extra assistance. Talk to your child’s teacher, school counselor or school nurse about what kind of support might help.

Fertility treatment – Most men with Klinefelter syndrome are unable to father children, because no sperm are produced in the testicles. Some men with Klinefelter syndrome may have some minimal sperm production.

Psychological counseling – Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A family therapist, counselor or psychologist can help you work through emotional issues.

Alternative Treatment

Herbal Treatment – However, many herbs and supplements have been shown to have phytoestrogen properties, including agrimony, alfalfa, arginine, black cohosh, bloodroot, boron, burdock, chamomile, chasteberry, dong quai, Essiac®, fennel, fenugreek, fo-ti, ginseng, hops, kudzu, licorice, melatonin, niacin, oregano, pomegranate, pygeum, quercetin, red clover, resveratrol, soy, St. John’s wort, thyme, white horehound, and yucca.

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